ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance for Recessive dystrophic epidermolysis bullosa; Pretibial epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nail disorder, nonsyndromic congenital, 8; Generalized dominant dystrophic epidermolysis bullosa

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Total variants: 3
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HGVS dbSNP
NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838
NM_000094.4(COL7A1):c.1907G>T rs116005007
NM_000094.4(COL7A1):c.7068+5G>A rs779875751

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