ClinVar Miner

List of variants in gene COL5A1 reported as likely pathogenic for Talipes equinovarus; Cutis laxa; Hyperextensible skin; Soft skin; Bruising susceptibility; Atrophic scars; Joint hypermobility; Bilateral talipes equinovarus; Joint hyperflexibility; Edema of the dorsum of feet

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_000093.4(COL5A1):c.2903del (p.Pro968fs) rs1057518871

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