ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

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Total variants: 3
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NM_001278074.1(COL5A1):c.2065C>T (p.Pro689Ser) rs943838033
NM_001278074.1(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811
NM_001278074.1(COL5A1):c.515T>A (p.Val172Asp) rs1554781678

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