ClinVar Miner

List of variants in gene FANCC reported as pathogenic for Fanconi anemia, complementation group C

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Total variants: 27
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HGVS dbSNP
FANCC, 250-BP DEL
NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del
NC_000009.12:g.(95240744_95247431)_(95317709_?)del
NM_000136.3(FANCC):c.-262_-79+3686del
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.355_356TC[1] (p.His120fs) rs1588220764
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.467del (p.Ser156fs)
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.662del (p.Glu221fs)
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459

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