ClinVar Miner

List of variants in gene COL7A1 studied for Generalized dominant dystrophic epidermolysis bullosa

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Total variants: 22
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HGVS dbSNP
NM_000094.3(COL7A1):c.2367C>T (p.Ser789=) rs139521707
NM_000094.3(COL7A1):c.2679G>A (p.Ala893=) rs374261595
NM_000094.3(COL7A1):c.3605G>A (p.Arg1202His) rs149011081
NM_000094.3(COL7A1):c.4222C>T (p.Arg1408Trp) rs143126677
NM_000094.3(COL7A1):c.4517G>A (p.Arg1506Gln) rs372793584
NM_000094.3(COL7A1):c.4968G>A (p.Glu1656=) rs779192809
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.6502-10C>G rs200193957
NM_000094.3(COL7A1):c.6900+4A>G rs1057518706
NM_000094.3(COL7A1):c.7128G>A (p.Pro2376=) rs776459582
NM_000094.3(COL7A1):c.7313C>G (p.Pro2438Arg) rs185142403
NM_000094.3(COL7A1):c.7353T>C (p.Pro2451=) rs139461888
NM_000094.3(COL7A1):c.7380+8G>A rs560853464
NM_000094.3(COL7A1):c.7416C>T (p.Gly2472=) rs142651194
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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