ClinVar Miner

List of variants in gene FANCC reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.-78-2A>G rs587779898
NM_000136.3(FANCC):c.175dup (p.Thr59fs) rs1554857855
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.368C>G (p.Ser123Ter) rs1554842855
NM_000136.3(FANCC):c.388G>T (p.Glu130Ter) rs876661231
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708

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