ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic for Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant

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Total variants: 4
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COL7A1, 5820G-A
COL7A1, IVS3DS, A-G, -2
COL7A1, IVS95DS, G-A, -1
NM_000094.3(COL7A1):c.4039G>C (p.Gly1347Arg) rs121912833

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