ClinVar Miner

List of variants in gene combination AOPEP, FANCC reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter) rs1588134571
NM_000136.3(FANCC):c.836C>A (p.Ser279Ter) rs1588134180
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713

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