ClinVar Miner

List of variants in gene COL7A1 studied for Inborn genetic diseases

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Total variants: 5
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NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.3(COL7A1):c.6724G>C (p.Gly2242Arg) rs121912837
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000094.4(COL7A1):c.6527dupC rs768128088

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