Variant Statistics
Summary charts and tables describing the ADAMTS13 variant dataset, including variant classes, predicted effects, ClinVar classifications and exon/intron distribution.
Dataset summary
385
Variants
575
Patients
77
With ClinVar
193
With gnomAD AF
Variant type distribution
Variant effect distribution
ClinVar classification
Exon / intron distribution
Top exon / intron locations
| Location type | Number | Count |
|---|---|---|
| exon | 7 | 32 |
| exon | 10 | 20 |
| exon | 19 | 19 |
| exon | 27 | 19 |
| exon | 23 | 16 |
| exon | 12 | 15 |
| exon | 17 | 15 |
| exon | 24 | 15 |
| exon | 25 | 14 |
| exon | 6 | 14 |
| exon | 29 | 13 |
| exon | 3 | 13 |
| exon | 13 | 12 |
| exon | 18 | 12 |
| exon | 21 | 12 |
ClinVar summary table
| ClinVar classification | Count |
|---|---|
| Unspecified | 181 |
| . | 127 |
| Pathogenic | 18 |
| Likely pathogenic | 15 |
| Uncertain significance | 11 |
| Conflicting classifications of pathogenicity | 10 |
| not provided | 7 |
| Uncertain signiificance | 7 |
| Pathogenic/Likely pathogenic | 6 |
| Benign/Likely Benign | 2 |
| conflicting | 1 |