List of variants reported as pathogenic for Fanconi anemia complementation group C by Baylor Genetics

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.456+4A>T	rs104886456	0.00021
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)	rs121917783	0.00011
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000136.3(FANCC):c.521+1G>A	rs145394391	0.00004
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	rs730881709	0.00002
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.843+1G>A	rs587779909	0.00002
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	rs1410356625	0.00001
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.535C>T (p.Arg179Ter)	rs769039987	0.00001
NM_000136.3(FANCC):c.844-1G>C	rs774209201	0.00001
NM_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	rs759900071
NM_000136.3(FANCC):c.1154+1del
NM_000136.3(FANCC):c.1257del (p.Thr420fs)	rs765551897
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)	rs2134456127
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)	rs730881710
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)	rs730881731
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.673G>T (p.Glu225Ter)	rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs)	rs104886459
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter)	rs1588134571
NM_000136.3(FANCC):c.844-1G>A
NM_000136.3(FANCC):c.8_9del (p.Gln3fs)	rs1831183107

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