ClinVar Miner

List of variants in gene FANCC reported as pathogenic by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
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.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.357_358del (p.His120fs) rs1588220764
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107

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