ClinVar Miner

List of variants in gene COL7A1 reported as benign for Generalized dominant dystrophic epidermolysis bullosa

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Total variants: 4
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HGVS dbSNP
NM_000094.3(COL7A1):c.4222C>T (p.Arg1408Trp) rs143126677
NM_000094.3(COL7A1):c.4517G>A (p.Arg1506Gln) rs372793584
NM_000094.3(COL7A1):c.7313C>G (p.Pro2438Arg) rs185142403
NM_000094.3(COL7A1):c.7353T>C (p.Pro2451=) rs139461888

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