ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic by Undiagnosed Diseases Network,NIH

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Total variants: 2
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NM_000094.3(COL7A1):c.1A>G (p.Met1Val) rs1064797078
NM_000094.3(COL7A1):c.5532+1G>A rs767182886

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