ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic by Gansu Province Medical Genetics Center

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Total variants: 5
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HGVS dbSNP
NM_000094.3(COL7A1):c.1A>G (p.Met1Val) rs1064797078
NM_000094.3(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) rs1064797079
NM_000094.3(COL7A1):c.4871del (p.Pro1624fs) rs1064797082
NM_000094.3(COL7A1):c.5924_5927del (p.Glu1975fs) rs1064797080
NM_000094.3(COL7A1):c.8278G>A (p.Gly2760Arg) rs1064797081

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