ClinVar Miner

List of variants in gene FANCC reported as pathogenic by GeneDx

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459

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