ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic 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: 8
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NM_000094.3(COL7A1):c.1637-1G>A rs886058642
NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803
NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904
NM_000094.3(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) rs201728948
NM_000094.4(COL7A1):c.1573C>T rs368007918
NM_000094.4(COL7A1):c.6082G>A rs762162799

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