ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic for Epidermolysis bullosa pruriginosa, autosomal recessive

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Total variants: 5
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COL7A1, IVS3DS, A-G, -2
COL7A1, IVS64DS, G-A, +1
COL7A1, IVS95DS, G-A, -1
NM_000094.3(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847
NM_000094.3(COL7A1):c.7787del (p.Gly2596fs) rs759990189

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