ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia, complementation group C by Leiden Open Variation Database

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Total variants: 33
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HGVS dbSNP
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.1155-1G>C
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625
NM_000136.3(FANCC):c.1494T>G (p.Ala498=)
NM_000136.3(FANCC):c.1550dup (p.Ile518fs)
NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter)
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
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.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.662del (p.Glu221fs)
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996G>A (p.Gln332=)

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