ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic for Generalized dominant dystrophic epidermolysis bullosa

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Total variants: 10
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HGVS dbSNP
NM_000094.3(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000094.3(COL7A1):c.6044G>A (p.Gly2015Glu) rs121912843
NM_000094.3(COL7A1):c.6110G>A (p.Gly2037Glu) rs121912846
NM_000094.3(COL7A1):c.6118G>A (p.Gly2040Ser) rs121912829
NM_000094.3(COL7A1):c.6227G>A (p.Gly2076Asp) rs121912850
NM_000094.3(COL7A1):c.6900+4A>G rs1057518706
NM_000094.4(COL7A1):c.6100G>A rs121912844
NM_000094.4(COL7A1):c.6127G>A rs121912836
NM_000094.4(COL7A1):c.6205C>T rs121912855
NM_000094.4(COL7A1):c.6859G>A rs121912839

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