New variants

This page lists the most recently added ADAMTS13 variants, using mut_id order.

Latest variant summary

385
Total variants
50
Shown here
385
First listed mut_id

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This page uses mut_id as a practical proxy for the order in which variants were added to the database.

Variant list

Showing 50 variants.
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mut_id HGVS Protein Type Effect Location Domain GRCh38 gnomAD AF ClinVar rsID ref_id
385 c.988-2A>G Point Splicing intron 8 133432586 76
384 c.3997C>T p.Pro1333Ser Point missense_variant exon 28 332
383 c.3856T>A p.Tyr1286Asn Point missense_variant exon 27 332
382 c.3801C>G p.Asn1267Lys Point missense_variant exon 27 332
381 c.2939_2952del Deletion Deletion 72
380 p.Cys997Phe Point missense_variant exon 23 72
379 c.3287G>A p.Arg1096His Point missense_variant 78
378 c.2218G>A p.Glu740Lys Point missense_variant 78
377 p.Asp1240Tyr Point missense_variant 317
376 c.3735G>A p.Trp1245Ter Point missense_variant exon 27 264, 275, 305
375 p.Trp28Leufs*111 Point 233
374 c.1403C>G p.Gln448Glu Point missense_variant exon 12 187, 273, 277
373 c.1308+1G>T Point Splicing intron 118
372 c.2411G>A p.Cys804Tyr Point missense_variant exon 19 133443552 0.00000193 Uncertain significance rs2130881785 331
371 c.3633C>G p.Asn1211Lys Point missense_variant exon 27 133456628 0.00000434 rs1842763401 330
370 c.3746G>T p.Gly1249Val Point missense_variant exon 28 133457931 329
369 c.1519C>T p.Arg507Trp Point missense_variant exon 13 133437832 0.00000433 rs909831139 328
368 c.946G>C p.Gly316Arg Point missense_variant exon 8 133430060 328
367 g.133431780_133434514dup Duplication Duplication exon 9,10,11 133431780 326
366 c.2167C>T p.Gln723Ter Point nonsense_variant exon 18 133442676 326
365 c.1192C>G p.Arg398Gly Point missense_variant exon 10 324
364 c.3338G>A p.Cys1113Tyr Point missense_variant exon 25 322
363 c.3829C>T p.Pro1277Ser Point missense_variant exon 27 332
362 c.3688T>A p.Tyr1230Asn Point missense_variant exon 26 6.30E-07 rs782729077 332
361 c.3633C>G p.Asn1211Lys Point missense_variant exon 26 rs1842763401 332
360 c.825-10_843del29 Deletion Deletion exon 8 12, 76, 139
359 c.781del Deletion deletion exon 7 292
358 c.3769insT Frameshift Insertion Insertion exon 27 188
357 c.2882delC p.Cys962Alafs*3 Deletion Deletion exon 23 294
356 c.2119_2150dup Duplication Duplication exon 18 292
355 c.2032C>A p.Tyr677Ter Point nonsense_variant exon 17 17
354 c.1615del Deletion deletion exon 14 292
353 c.1584+442_1969-338delins2730_2731+660 Insertion insertion intron 13 292
352 c.1199del Deletion frameshift_variant exon 10 6
351 c.2929T>C p.Cys977Arg Point missense_variant exon 23 0.00000123 76, 332
350 c.2914C>T p.Arg972Trp Point missense_variant exon 23 0.00001115 rs782315945 78
349 c.2851T>G p.Cys951Gly Point missense_variant exon 22 0.00000312 rs121908468 188
348 c.2836T>C p.Cys946Arg Point missense_variant exon 22 0.00000187 71, 76, 271
347 c.2728C>T p.Arg910Ter Point nonsense_variant exon 21 0.00000823 rs781844824 71, 72, 80, 138, 181, 186, 305, 317, 332
346 c.2725G>A p.Gly909Arg Point missense_variant exon 21 0.00000696 rs138742754 214
345 c.2723G>A p.Cys908Tyr Point missense_variant exon 21 0.00000126 rs281875301 71, 93, 102, 122, 179, 205, 214, 269, 332
344 c.2674C>T p.Gln892Ter Point nonsense_variant exon 21 0.00000186 rs1554792374 71, 205
343 c.2410T>C p.Cys804Arg Point missense_variant exon 19 0.00000128 rs754909071 69, 71, 95
342 c.2376_2401del p.Ala793ProfsTer43 Deletion frameshift_variant exon 19 6.34E-07 rs387906342 188
341 c.2317C>T p.Gln773Ter Point nonsense_variant exon 19 0.00000376 rs1376759965 1
340 c.2293C>T p.Arg765Trp Point missense_variant exon 19 0.00001379 rs782614158 300
339 c.2281G>A p.Gly761Ser Point missense_variant exon 19 0.00000250 rs782542048 71, 125, 220, 233, 332
338 c.2279delG p.Gly760Alafs*18 Deletion frameshift_variant exon 19 0.00000125 71, 72, 181, 332
337 c.2260T>C p.Cys754Arg Point missense_variant exon 19 0.00000187 rs1554791473 78, 138, 332
336 c.2167C>A p.Gln723Lys Point missense_variant exon 18 0.0001562 rs138014548 71, 205, 214, 245