Variant map

ADAMTS13 variants are shown across the protein sequence. Missense and nonsense variants are plotted above the protein; all other variant types are plotted below. Circle markers indicate variants present in gnomAD, and triangle markers indicate variants not identified in gnomAD.

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Mapped variants

Showing 285 variants.

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mut_id	HGVS	Protein	AA position	Variant type	Effect	Patient reports	gnomAD AF	ClinVar	rsID
1	c.22dupG	p.Ala8GlyfsTer131	8	Duplication	frameshift_variant	1	0.00000433	Pathogenic/Likely pathogenic	.
2	c.83G>A	p.Trp28Ter	28	Point	nonsense_variant	1	0.00001115	.	rs964642490
3	c.84G>A	p.Trp28Ter	28	Point	nonsense_variant	1	6.20E-07	Likely pathogenic	rs2130769073
4	c.130C>T	p.Gln44Ter	44	Point	nonsense_variant	3	6.20E-07	Pathogenic/Likely pathogenic	rs1554784015
5	c.237C>G	p.Ile79Met	79	Point	missense_variant	1	6.20E-07	not provided	rs281875297
6	c.262G>A	p.Val88Met	88	Point	missense_variant	6	0.00000557	conflicting	rs281875302
7	c.262G>C	p.Val88Leu	88	Point	missense_variant	1	6.20E-07	.	.
8	c.283G>C	p.Ala95Pro	95	Point	missense_variant	1	Not identified	.	.
9	c.286C>G	p.His96Asp	96	Point	missense_variant	1	0.00000123	Pathogenic	rs121908467
10	c.287_288del	p.His96Profs*42	96	Deletion	Deletion	1	Not identified	.	.
11	c.291G>T	p.Gln97His	97	Point	missense_variant	1	Not identified	.	.
12	c.291_319del	p.Glu98ProfsTer31	98	Deletion	frameshift_variant	4	0.00000123	Pathogenic	rs387906345
13	c.304C>A	p.Arg102Ser	102	Point	missense_variant	1	1.24E-06	.	rs121908469
14	c.304C>T	p. Arg102Cys	102	Point	missense_variant	2	1.18E-05	Pathogenic	rs121908469
249	c.305G>A	p.Arg102His	102	Point	missense_variant	3	0.00009977	Likely pathogenic	rs782716712
250	c.3070T>C	p.Cys1024Arg	102	Point	missense_variant	1	6.20E-07		.
251	c.3121C>T	p.Gln1041Ter	104	Point	nonsense_variant	1	6.20E-07		.
252	c.3198_3199del	p.Cys1067SerfsTer30	106	Deletion	frameshift_variant	1	0.00001057	Pathogenic	rs782288601
253	c.3265G>T	p.Gly1089Trp	108	Point	missense_variant	1	0.00000124	.	rs1842671370
254	c.327C>G	p.Asn109Lys	109	Point	missense_variant	1	0.00000433	.	rs1466092212
255	c.3283C>T	p.Arg1095Trp	109	Point	missense_variant	4	0.00000435	Uncertain significance	rs782383410
256	c.3284G>A	p.Arg1095Gln	109	Point	missense_variant	3	0.00000311	Conflicting classifications of pathogenicity	rs373569027
257	c.3313C>T	p.Gln1105Ter	110	Point	nonsense_variant	1	6.21E-07		.
15	c.334delG	p.Ala111GlnfsTer18	111	Deletion	Deletion	2	6.20E-07	.	.
258	c.332G>A	p.Gly111Glu	111	Point	missense_variant	1	6.20E-07		.
16	c.356C>T	p.Ser119Phe	119	Point	missense_variant	1	Not identified	.	.
259	c.3616C>T	p.Arg1206Ter	120	Point	nonsense_variant	5	0.00000805	Pathogenic	rs782818582
260	c.3637T>C	p.Cys1213Arg	121	Point	missense_variant	1	0.00000124	Likely pathogenic	rs1554795860
261	c.3638G>A	p.Cys1213Tyr	121	Point	missense_variant	1	6.20E-07	Pathogenic	rs121908474
262	c.3650T>C	p.Ile1217Thr	121	Point	missense_variant	5	0.00001921	Pathogenic	rs200847393
263	c.3655C>T	p.Arg1219Trp	121	Point	missense_variant	7	0.00000433	Not provided	rs281875339
264	c.3656G>A	p.Arg1219Gln	121	Point	missense_variant	3	0.00002417	Likely pathogenic	rs782649881
17	c.372_373insGT	p.Arg125Valfs*6	125	Insertion	Insertion	1	Not identified	.	.
265	c.3779dupT	p.Met1260IlefsTer34	126	Duplication	frameshift_variant	1	0.00000186	.	rs1564445915
266	c.3820C>T	p.Arg1274Cys	127	Point	missense_variant	1	0.000109	Uncertain significance	rs371964138
267	c.3825C>A	p.Cys1275Ter	127	Point	nonsense_variant	1	6.23E-07	Likely pathogenic	rs782463983
268	c.3904C>T	p.Gln1302Ter	130	Point	nonsense_variant	1	6.20E-07	.	rs2130956441
269	c.4006C>T	p.Arg1336Trp	133	Point	missense_variant	6	0.00001054	Not provided	rs281875308
270	c.4007G>A	p.Arg1336Gln	133	Point	missense_variant	1	0.00001736	Uncertain significance	rs782213090
271	c.4085A>T	p.Asp1362Val	136	Point	missense_variant	1	2.0538E-06		.
272	c.4135T>C	p.Trp1379Arg	137	Point	missense_variant	1	0.0000031	.	rs1361529166
273	c.4143dupA	p.Glu1382ArgfsTer6	138	Duplication	frameshift_variant	62	0.00005145	Pathogenic	rs387906343
274	c.4184T>C	p.Leu1395Pro	139	Point	missense_variant	1	1.5935E-06		.
18	c.427A>T	p.Ile143Phe	143	Point	missense_variant	3	Not identified	.	.
19	c.428T>C	p.Ile143Thr	143	Point	missense_variant	2	Not identified	.	.
20	c.436A>T	p.Asn146Tyr	146	Point	missense_variant	1	0.00000247	Uncertain signiificance	rs888709549
275	c.448T>C	p.Ser150Pro	150	Point	missense_variant	1	0.00000185	.	rs1386875680
21	c.460G>A	p.Val154Ile	154	Point	missense_variant	1	0.00001487	Uncertain signiificance	rs369026148
276	c.470G>A	p.Trp157Ter	157	Point	nonsense_variant	1	6.20E-07		.
22	c.496G>A	p.Asp166Asn	166	Point	missense_variant	1	0.00001797	.	rs781825239
23	c.518A>G	p.Asp173Gly	173	Point	missense_variant	2	0.00000185	.	rs1554785165
24	c.530A>G	p.Tyr177Cys	177	Point	missense_variant	3	6.20E-07	.	rs200594025
25	c.533T>C	p.Ile178Thr	178	Point	missense_variant	1	Not identified	.	.
277	c.548T>A	p.Leu183Gln	183	Point	missense_variant	1	0.00000309	.	rs1554785228
278	c.559G>C	p.Asp187His	187	Point	missense_variant	2	0.0003966	Conflicting classifications of pathogenicity	rs148312697
26	c.568C>T	p.Arg190Trp	190	Point	missense_variant	1	0.00001054	Uncertain signiificance	rs782650307
279	c.577C>T	p.Arg193Trp	193	Point	missense_variant	6	0.00001178	Likely pathogenic	rs281875287
280	c.578G>A	p.Arg193Gln	193	Point	missense_variant	2	0.00001054	.	rs782083669
281	c.581G>T	p.Gly194Val	194	Point	missense_variant	1	0.00000371	Uncertain significance	rs1554785242
282	c.587C>T	p.Thr196Ile	196	Point	missense_variant	2	0.00002666	Pathogenic	rs121908470
27	c.605G>A	p.Cys202Tyr	202	Point	missense_variant	1	6.20E-07	.	.
28	c.607T>C	p.Ser203Pro	203	Point	missense_variant	1	Not identified	.	.
29	c.623G>C	p.Cys208Ser	208	Point	missense_variant	1	6.21E-07	.	rs782442144
283	c.649G>C	p.Asp217His	217	Point	missense_variant	3	0.0000218	Uncertain significance	rs782305581
284	c.655G>C	p.Gly219Arg	219	Point	missense_variant	1	6.23E-07		.
30	c.665T>C	p.Ile222Thr	222	Point	missense_variant	1	Not identified	.	.
31	c.681G>C	p.Gly227Arg	227	Point	missense_variant	1	0.00000124	.	.
285	c.679G>A	p.Gly227Arg	227	Point	missense_variant	2	0.00000124		.
286	c.695T>A	p.Leu232Gln	232	Point	missense_variant	4	7.85E-07	Not provided	rs281875292
287	c.697G>A	p.Glu233Lys	233	Point	missense_variant	1	0.00000222	.	rs1047417075
32	c.702C>A	p.His234Gln	234	Point	missense_variant	2	Not identified	Likely pathogenic	.
288	c.701A>G	p.His234Arg	234	Point	missense_variant	1	7.68E-07		.
33	c.703G>C	p.Asp235His	235	Point	missense_variant	1	Not identified	.	.
289	c.703G>T	p.Asp235Tyr	235	Point	missense_variant	2	0.00000228	Conflicting classifications of pathogenicity	rs281875337
290	c.706G>T	p.Gly236Cys	236	Point	missense_variant	1	0.00000225	.	rs781916049
34	c.708_709insG	Ala237GlyfsTer153	237	Insertion	frameshift_variant	1	Not identified	.	.
35	c.708delC	p.Ala237Argfs*12	237	Deletion	Deletion	1	Not identified	.	.
36	c.721delG	p.Gly241fs	241	Deletion	Deletion	1	Not identified		.
37	c.725G>A	p.Cys242Tyr	242	Point	missense_variant	1	7.35E-07	Conflicting classifications of pathogenicity	.
291	c.724_729del	p.Cys242_Gly243del	242	Deletion	Deletion	1	0.00000297		.
292	c.749C>T	p.Ala250Val	250	Point	missense_variant	1	7.33E-07	Pathogenic	rs121908478
38	c.768_774del7	p.Arg257Alafs*13	257	Deletion	Deletion	2	Not identified	.	.
293	c.768_774dup	p.Gly259ProfsTer133	259	Duplication	frameshift_variant	2	0.00000516		.
39	c.788C>G	p.Ser263Cys	263	Point	missense_variant	1	Not identified	.	.
294	c.788C>T	p.Ser263Phe	263	Point	missense_variant	1	0.00000220		.
40	c.794G>C	p.Cys265Ser	265	Point	missense_variant	2	0.00000294	Uncertain signiificance	.
41	c.794G>A	p.Cys265Tyr	265	Point	missense_variant	1	7.37E-07	.	.
42	c.796A>T	p.Ser266Cys	266	Point	missense_variant	1	0.00000295	.	.
295	c.796A>T	p.Ser266Cys	266	Point	missense_variant	1	0.00000295		.
296	c.803G>C	p.Arg268Pro	268	Point	missense_variant	3	7.39E-07	Pathogenic	rs121908477
43	c.841T>A	p.Cys281Ser	281	Point	missense_variant	1	Not identified		.
44	c.844G>C	p.Val282Leu	282	Point	missense_variant	1	0.0000039	.	rs782674608
297	c.911A>G	p.Tyr304Cys	304	Point	missense_variant	1	0.00000251	Uncertain significance	rs281875285
45	c.914A>G	p.Tyr305Cys	305	Point	missense_variant	1	Not identified		.
298	c.915C>A	p.Tyr305Ter	305	Point	nonsense_variant	1	0.00000815	.	rs1840627224
46	c.932G>A	p.Cys311Tyr	311	Point	missense_variant	1	Not identified		.
299	c.934C>T	p.Arg312Cys	312	Point	missense_variant	1	4.1567E-06	.	rs1554786790
368	c.946G>C	p.Gly316Arg	316	Point	missense_variant	1	Not identified		.
300	c.964T>G	p.Cys322Gly	322	Point	missense_variant	1	0.00000502	.	rs931645668
47	c.972C>A	p.Phe324Leu	324	Point	missense_variant	1	0.00000314	.	rs782268976
48	c.1007_1025dup19	p.Asp343LeufsTer53	343	Insertion	Insertion	1	Not identified	.	.
301	c.1039T>A	p.Cys347Ser	347	Point	missense_variant	1	6.41E-07	Not provided	rs281875294
302	c.1039T>C	p.Cys347Arg	347	Point	missense_variant	1	6.41E-07		.
303	c.1045C>T	p.Arg349Cys	349	Point	missense_variant	5	0.00000320	Pathogenic	rs281875288
49	c.1058C>T	p.Pro353Leu	353	Point	missense_variant	6	2.82E-05	Likely pathogenic	rs281875338
50	c.1093T>G	p.Trp365Gly	365	Point	missense_variant	1	Not identified	.	.
51	c.1097G>A	p.Cys366Tyr	366	Point	missense_variant	2	Not identified	.	.
52	c.1073G>A	p.Gly385Glu	385	Point	missense_variant	1	Not identified	.	.
53	c.1160G>C	p.Trp387Ser	387	Point	missense_variant	1	6.20E-07	.	rs780251348
304	c.1169G>A	p.Trp390Ter	390	Point	nonsense_variant	2	3.7189E-06	Pathogenic	rs374655146
305	c.1170G>C	p.Trp390Cys	390	Point	missense_variant	2	6.20E-07	Not provided	rs281875306
306	c.1177C>T	p.Arg393Ter	393	Point	nonsense_variant	1	9.2967E-06	Pathogenic	rs782570540
307	c.1187G>A	p.Cys396Tyr	396	Point	missense_variant	4	6.20E-07		.
308	c.1190C>T	p.Ser397Phe	397	Point	missense_variant	1	6.8428E-07	.	rs1564418207
309	c.1192C>T	p.Arg398Cys	398	Point	missense_variant	4	0.00000371	Likely pathogenic	rs376606652
310	c.1193G>A	p.Arg398His	398	Point	missense_variant	2	0.00000657	Likely pathogenic	rs121908471
365	c.1192C>G	p.Arg398Gly	398	Point	missense_variant	1	Not identified		.
54	c.1198T>C	p.Cys400Arg	400	Point	missense_variant	2	Not identified	.	.
311	c.1201G>A	p.Gly401Arg	401	Point	missense_variant	2	0.00000371	Uncertain significance	rs782033728
55	c.1226G>A	p.Arg409Gln	409	Point	missense_variant	1	0.00000309	Uncertain signiificance	rs1588165946
312	c.1225C>T	p.Arg409Trp	409	Point	missense_variant	2	0.00000433	Uncertain significance	rs959872423
56	c.1256G>T	p.Gly419Val	419	Point	missense_variant	1	6.20E-07	.	rs1024726284
57	c.1261C>T	p.Arg421Cys	421	Point	missense_variant	1	0.0005521	Conflicting classifications of pathogenicity	rs145825553
58	c.1285C>T	p.Gln429Ter	429	Point	nonsense_variant	2	Not identified	.	.
59	c.1297T>C	p.Cys433Arg	433	Point	missense_variant	1	Not identified	.	.
60	c.1297T>G	p.Cys433Gly	433	Point	missense_variant	1	Not identified	.	.
61	c.1305delT	p.Thr435Serfs*	435	Deletion	Deletion	1	Not identified	.	.
313	c.1308G>C	p.Gln436His	436	Point	missense_variant	1	0.00005938		rs587642546
62	c.1312T>C	p.Cys438Arg	438	Point	missense_variant	1	Not identified	.	.
63	c.1313G>C	p.Cys438Ser	438	Point	missense_variant	1	Not identified	.	.
314	c.1313G>T	p.Cys438Phe	438	Point	missense_variant	1	0.00000255		rs1841265398
64	c.1328T>C	p.Leu443Pro	443	Point	missense_variant	1	Not identified	.	.
65	c.1335delC	p.Phe445LeufsTer52	445	Deletion	frameshift_variant	3	6.39E-07	.	.
374	c.1403C>G	p.Gln448Glu	448	Point	missense_variant	4	Not identified
315	c.1345C>T	p.Gln449Ter	449	Point	nonsense_variant	5	6.6203E-06		rs121908476
66	c.1368G>C	p.Gln456His	456	Point	missense_variant	1	Not identified	.	.
67	c.1368G>T	p.Gln456His	456	Point	missense_variant	1	0.002818	Benign/Likely Benign	rs36220239
316	c.1370C>T	p.Pro457Leu	457	Point	missense_variant	1	0.002119		rs36220240
68	c.1382C>A	p.Ser461Tyr	461	Point	missense_variant	1	Not identified	.	.
69	c.1408dup	p.Trp470Leufs*64	470	Duplication	frameshift_variant	1	Not identified	.	.
70	c.1409G>A	p.Trp470Ter	470	Point	nonsense_variant	1	6.28E-07	.	rs1554789233
71	c.1423C>T	p.Pro475Ser	475	Point	missense_variant	1	0.002441	Conflicting classifications of pathogenicity	rs11575933
72	c.1435_1436insG	p.Asp480GlyfsTer54	480	Insertion	frameshift_variant	1	Not identified	.	.
317	c.1456_1457delAT	p.Met486ValfsTer47	486	Deletion	frameshift_variant	2	0.00000681		rs782242503
73	c.1491G>C	p.Lys497Asn	497	Point	missense_variant	1	0.00000991	Uncertain signiificance	rs781786860
318	c.1492C>T	p.Arg498Cys	498	Point	missense_variant	2	0.00001363		rs201457594
74	c.1510G>T	p.Asp504Tyr	504	Point	missense_variant	1	Not identified	.	.
75	c.1520G>A	p.Arg507Gln	507	Point	missense_variant	5	6.82E-06	Not provided	rs281875296
369	c.1519C>T	p.Arg507Trp	507	Point	missense_variant	1	0.00000433		rs909831139
319	c.1523G>A	p.Cys508Tyr	508	Point	missense_variant	1	0.00000185		rs281875305
76	c.1564T>C	p.Cys522Arg	522	Point	missense_variant	2	Not identified	.	.
77	c.1574G>A	p.Gly525Asp	525	Point	missense_variant	1	6.20E-07	.	.
320	c.1582A>G	p.Arg528Gly	528	Point	missense_variant	1	6.20E-07		rs121908473
78	c.1595G>T	p.Cys532Phe	532	Point	missense_variant	4	Not identified	.	.
79	c.1624T>G	p.Trp542Gly	542	Point	missense_variant	1	6.20E-07	.	.
80	c.1643G>T	p.Cys548Phe	548	Point	missense_variant	1	Not identified	.	.
81	c.1648G>A	p.Gly550Arg	550	Point	missense_variant	1	Not identified	.	.
82	c.1651G>T	p.Asp551Tyr	551	Point	missense_variant	1	Not identified	.	.
83	c.1703G>T	p.Arg568Ile	568	Point	missense_variant	1	0.00000185	.	rs1554789735
321	c.1786+1G>A	p.Glu569Alafs*27	569	Point	Splicing	1	6.20E-07		rs782077726
322	c.1709A>G	p.Tyr570Cys	570	Point	missense_variant	1	6.21E-07		.
323	c.1760A>C	p.Asn587Thr	587	Point	missense_variant	1	6.20E-07		.
84	c.1778C>T	p.Thr593Ile	593	Point	missense_variant	1	6.20E-07	.	.
324	c.1787C>T	p.Ala596Val	596	Point	missense_variant	9	0.00000681		rs281875299
325	c.1816G>C	p.Ala606Pro	606	Point	missense_variant	1	0.00000743		rs281875290
85	c.1851C>G	p.Tyr617Ter	617	Point	nonsense_variant	1	0.00000185	.	rs371266006
86	c.1867G>A	p.Asp623Asn	623	Point	missense_variant	1	0.00000247	.	rs1841581998
87	c.1883A>G	p.Tyr628Cys	628	Point	missense_variant	1	0.00000123	.	.
88	c.1892C>T	p.Ala631Val	631	Point	missense_variant	1	Not identified	.	.
326	c.1921G>A	p.Glu641Lys	641	Point	missense_variant	3	0.0000124		rs782547718
327	c.1922delA	p.Glu641GlyfsTer57	641	Deletion	frameshift_variant	1	6.20E-07		.
89	c.1928T>G	p.Ile643Ser	643	Point	missense_variant	1	Not identified	.	.
328	c.1973A>G	p.Tyr658Cys	658	Point	missense_variant	1	6.5694E-06		rs281875335
329	c.1976G>A	p.Arg659Lys	659	Point	missense_variant	1	0.0002441		rs150764227
330	c.2000delA	p.Asn667ThrfsTer31	667	Deletion	frameshift_variant	2	0.00000247		.
90	c.2012C>A	p.Pro671Gln	671	Point	missense_variant	1	Not identified	.	.
331	c.2012C>T	p.Pro671Leu	671	Point	missense_variant	1	6.20E-07		rs281875295
332	c.2017A>T	p.Ile673Phe	673	Point	missense_variant	7	0.00000681		rs281875307
91	c.2050C>T	p.Gln684Ter	684	Point	nonsense_variant	1	0.00000185	Pathogenic	rs370121816
92	c.2058G>A	p.Trp686Ter	686	Point	nonsense_variant	1	Not identified	.	.
93	c.2063delG	p.Trp688Ter	688	Deletion	nonsense_variant	1	6.20E-07	.	rs1554791108
333	c.2068G>A	p.Ala690Thr	690	Point	missense_variant	3	0.00001611		rs374840594
94	c.2074C>T	p.Arg692Cys	692	Point	missense_variant	8	6.82E-06	Pathogenic	rs121908475
334	c.2085C>G	p.Cys695Trp	695	Point	missense_variant	1	6.20E-07		rs2130875779
95	c.2104G>A	p.Gly702Arg	702	Point	missense_variant	1	Not identified	.	.
96	c.2105G>T	p.Gly702Val	702	Point	missense_variant	1	Not identified	.	.
97	c.2107T>C	p.Leu703Pro	703	Point	missense_variant	1	0.00000124	.	.
335	c.2115G>A	p.Trp705Ter	705	Point	nonsense_variant	1	6.20E-07		rs782400086
98	c.2130C>G	p.Cys710Trp	710	Point	missense_variant	1	Not identified	.	.
99	c.2137delC	p.Gln713ArgfsTer65	713	Deletion	frameshift_variant	1	6.20E-07	.	.
336	c.2167C>A	p.Gln723Lys	723	Point	missense_variant	2	0.0001562		rs138014548
366	c.2167C>T	p.Gln723Ter	723	Point	nonsense_variant	2	Not identified		.
100	c.2188C>T	p.Pro730Ser	730	Point	missense_variant	1	Not identified	.	.
101	c.2203G>T	p.Glu735Ter	735	Point	nonsense_variant	2	Not identified	.	.
378	c.2218G>A	p.Glu740Lys	740	Point	missense_variant	1	Not identified
337	c.2260T>C	p.Cys754Arg	754	Point	missense_variant	7	0.00000187		rs1554791473
102	c.2272T>C	p.Cys758Arg	758	Point	missense_variant	2	1.25E-06	Likely pathogenic	rs281875300
103	c.2275G>A	p.Gly759Arg	759	Point	missense_variant	1	6.25E-07	.	rs782640568
338	c.2279delG	p.Gly760Alafs*18	760	Deletion	frameshift_variant	1	0.00000125		.
339	c.2281G>A	p.Gly761Ser	761	Point	missense_variant	3	0.00000250		rs782542048
340	c.2293C>T	p.Arg765Trp	765	Point	missense_variant	1	0.00001379		rs782614158
341	c.2317C>T	p.Gln773Ter	773	Point	nonsense_variant	1	0.00000376		rs1376759965
104	c.2351G>A	p.Arg784Gln	784	Point	missense_variant	1	0.00002961	Uncertain signiificance	rs377187626
105	c.2357G>A	p.Arg786Lys	786	Point	missense_variant	1	Not identified	.	.
342	c.2376_2401del	p.Ala793ProfsTer43	793	Deletion	frameshift_variant	1	6.34E-07		rs387906342
106	c.2397C>A	p.Cys799Ter	799	Point	nonsense_variant	1	Not identified	.	.
107	c.2404C>T	p.Gln802Ter	802	Point	nonsense_variant	1	Not identified	.	.
343	c.2410T>C	p.Cys804Arg	804	Point	missense_variant	4	0.00000128		rs754909071
372	c.2411G>A	p.Cys804Tyr	804	Point	missense_variant	1	0.00000193	Uncertain significance	rs2130881785
108	c.2434G>T	p.Glu812Ter	812	Point	missense_variant	1	Not identified	.	.
109	c.2548G>A	p.Asp850Asn	850	Point	missense_variant	1	6.20E-07	.	rs782584684
110	c.2651G>A	p.Trp884Ter	884	Point	nonsense_variant	1	6.20E-07	.	rs781844998
344	c.2674C>T	p.Gln892Ter	892	Point	nonsense_variant	1	0.00000186		rs1554792374
111	c.2677G>C	p.Ala893Pro	893	Point	missense_variant	1	0.00000342	.	rs1311406038
112	c.3070T>G	p.Cys1024Gly	894	Point	missense_variant	5	1.61E-05	Pathogenic/Likely pathogenic	rs121908472
113	c.2708C>T	p.Ser903Leu	903	Point	missense_variant	1	0.00138	Benign/Likely Benign	rs78977446
114	c.2723G>C	p.Cys908Ser	908	Point	missense_variant	1	Not identified	.	.
115	c.2724C>G	p.Cys908Trp	908	Point	missense_variant	1	Not identified	.	.
345	c.2723G>A	p.Cys908Tyr	908	Point	missense_variant	10	0.00000126		rs281875301
116	c.2725G>C	p.Gly909Arg	909	Point	missense_variant	1	Not identified	.	.
346	c.2725G>A	p.Gly909Arg	909	Point	missense_variant	1	0.00000696		rs138742754
347	c.2728C>T	p.Arg910Ter	910	Point	nonsense_variant	8	0.00000823		rs781844824
117	c.2746C>T	p.Arg916Cys	916	Point	missense_variant	4	3.17E-05	Conflicting classifications of pathogenicity	rs374444423
118	c.2785C>T	p.Gln929Ter	929	Point	nonsense_variant	1	Not identified	.	.
348	c.2836T>C	p.Cys946Arg	946	Point	missense_variant	1	0.00000187		.
119	c.2839C>T	p.Gln947Ter	947	Point	nonsense_variant	1	Not identified	.	.
349	c.2851T>G	p.Cys951Gly	951	Point	missense_variant	1	0.00000312		rs121908468
120	c.2865G>A	p.Trp955X	955	Point	nonsense_variant	1	Not identified	.	.
121	c.2867A>C	p.Gln956Pro	956	Point	missense_variant	1	Not identified	.	.
122	c.2883del	p.Cys962Alafs*3	962	Deletion	Deletion	1	Not identified	.	.
123	c.2890G>A	p.Val964Met	964	Point	missense_variant	1	0.00009294	Conflicting classifications of pathogenicity	rs141811556
350	c.2914C>T	p.Arg972Trp	972	Point	missense_variant	1	0.00001115		rs782315945
124	c.2930_2935delGTGCCC	.	977	Deletion	Deletion	5	Not identified	.	.
125	c.2930G>T	p.Cys977Phe	977	Point	missense_variant	2	Not identified	.	.
351	c.2929T>C	p.Cys977Arg	977	Point	missense_variant	1	0.00000123		.
380		p.Cys997Phe	997	Point	missense_variant	1	Not identified
126	c.3014A>T	p.Glu1005Val	1005	Point	missense_variant	1	Not identified	.	.
127	c.3033delC	p.Cys1012AlafsX109	1012	Deletion	Deletion	1	Not identified	.	.
128	c.3047G>A	p.Trp1016Ter	1016	Point	nonsense_variant	1	Not identified	.	.
129	c.3092G>A	p.Gly1031Asp	1031	Point	missense_variant	1	Not identified	.	.
130	c.3100A>T	p.Arg1034Ter	1034	Point	nonsense_variant	4	Not identified	.	.
131	c.3107C>A	p.Ser1036Ter	1036	Point	missense_variant	2	Not identified	.	.
132	c.3116G>A	p.Cys1039Tyr	1039	Point	missense_variant	1	Not identified	.	.
133	c.3178C>T	p.Arg1060Trp	1060	Point	missense_variant	57	0.001095	Pathogenic/Likely pathogenic	rs142572218
134	c.3199T>A	p.Cys1067Ser	1067	Point	missense_variant	1	6.22E-07	.	.
135	c.3223C>T	p.Arg1075Cys	1075	Point	missense_variant	1	0.00000436	Uncertain significance	rs782700247
136	c.3230A>C	p.His1077Pro	1077	Point	missense_variant	1	Not identified	.	.
137	c.3242G>A	p.Trp1081Ter	1081	Point	nonsense_variant	1	Not identified	.	.
138	c.3251G>A	p.Cys1084Tyr	1084	Point	missense_variant	3	Not identified	.	.
139	c.3252_3253delCT	p.Arg1096Ter	1096	Deletion	nonsense_variant	1	Not identified		.
379	c.3287G>A	p.Arg1096His	1096	Point	missense_variant	1	Not identified
364	c.3338G>A	p.Cys1113Tyr	1113	Point	missense_variant	1	Not identified		.
140	c.3367C>T	p.Arg1123Cys	1123	Point	missense_variant	3	4.3411E-06	Pathogenic/Likely pathogenic	rs281875340
141	c.3368G>A	p.Arg1123His	1123	Point	missense_variant	3	0.00000558	.	rs782311861
142	c.3390T>G	p.Cys1130Trp	1130	Point	missense_variant	1	Not identified	.	.
143	c.3421delC	p.His1141Thrfs*85	1141	Deletion	Deletion	1	Not identified	.	.
144	c.3530G>A	p.Arg1177Gln	1177	Point	missense_variant	1	0.00003048	Uncertain significance	rs370692680
145	c.3543del	p.Gln1183ArgfsTer43	1183	Deletion	frameshift_variant	1	0.00000124	Likely pathogenic	rs1060499780
146	c.3550G>T	p.Asp1184Tyr	1184	Point	missense_variant	1	Not identified	.	.
147	c.3557T>C	p.Leu1186Ser	1186	Point	missense_variant	1	Not identified	.	.
148	c.3567G>A	p.Trp1189Ter	1189	Point	nonsense_variant	1	6.8435E-07	Pathogenic	.
149	c.3628C>T	p.Gln1210Ter	1210	Point	missense_variant	1	Not identified		.
361	c.3633C>G	p.Asn1211Lys	1211	Point	missense_variant	1	Not identified		rs1842763401
371	c.3633C>G	p.Asn1211Lys	1211	Point	missense_variant	1	0.00000434		rs1842763401
150	c.3657_3658insT	p.Pro1220Serfs*	1220	Insertion	frameshift_variant	1	Not identified		.
151	c.3667G>T	p.Glu1223Ter	1223	Point	nonsense_variant	1	6.25E-07		.
362	c.3688T>A	p.Tyr1230Asn	1230	Point	missense_variant	1	6.30E-07		rs782729077
152	c.3716G>T	p.Gly1239Val	1239	Point	missense_variant	4	Not identified		.
377		p.Asp1240Tyr	1240	Point	missense_variant	1	Not identified
153	c.3728T>C	p.Leu1243Pro	1243	Point	missense_variant	1	Not identified		.
370	c.3746G>T	p.Gly1249Val	1249	Point	missense_variant	1	Not identified		.
154	c.3772delA	p.Asn1258ThrfsTer15	1258	Deletion	Deletion	17	Not identified		.
382	c.3801C>G	p.Asn1267Lys	1267	Point	missense_variant	1	Not identified
363	c.3829C>T	p.Pro1277Ser	1277	Point	missense_variant	1	Not identified		.
155	c.3854G>C	p.Arg1285Pro	1285	Point	missense_variant	1	Not identified		.
383	c.3856T>A	p.Tyr1286Asn	1286	Point	missense_variant	1	Not identified
156	c.3923G>A	p.Gly1308Asp	1308	Point	missense_variant	1	Not identified		.
157	c.3988G>C	p.Ala1330Pro	1330	Point	missense_variant	1	Not identified	.	.
384	c.3997C>T	p.Pro1333Ser	1333	Point	missense_variant	1	Not identified
158	c.4015del	p.Ile1339SerfsTer21	1339	Deletion	Deletion	1	Not identified		.
159	c.4034del	p.Asn1345ThrfsTer14	1345	Deletion	frameshift_variant	2	0.00000656		.
160	c.4101dupG	p.Thr1368Aspfs*20	1368	Duplication	Duplication	1	Not identified		.
161	c.4154A>C	p.Gln1385Pro	1385	Point	missense_variant	1	Not identified		.
162	c.4156G>C	p.Ala1386Pro	1386	Point	missense_variant	2	Not identified		.
163	c.4205G>C	p.Arg1402Pro	1402	Point	missense_variant	1	Not identified		.

ADAMTS13 Variant Database

Variant map

Filter map

Variant distribution map

Mapped variants