ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance by Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr) rs141787797 0.00007
NM_000094.4(COL7A1):c.2440+3A>C rs2045486359

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