ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.4(COL7A1):c.4048-1G>T
NM_000094.4(COL7A1):c.6205C>T rs121912855
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)
NM_000094.4(COL7A1):c.8156G>A (p.Gly2719Asp)

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