ClinVar Miner

List of variants in gene FANCC reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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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
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
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.514C>T (p.Gln172Ter)

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