ClinVar Miner

List of variants in gene C3 reported as likely benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257 0.00118
NM_000064.4(C3):c.600-12C>T rs200316931 0.00076
NM_000064.4(C3):c.876+19G>A rs11569574 0.00068
NM_000064.4(C3):c.1908C>T (p.Ala636=) rs757684194 0.00001
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905

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