ClinVar Miner

List of variants in gene COL5A1 reported as likely pathogenic for Inguinal hernia; Cataract; Abnormally lax or hyperextensible skin; Soft skin; Bruising susceptibility; Mitral valve prolapse; Gastroesophageal reflux; Pneumothorax; Difficulty walking; Patellar dislocation; Constrictive median neuropathy; Pain; Dysplasia of acetabulum

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.608G>T (p.Gly203Val) rs1554781700

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