ClinVar Miner

List of variants studied for Fanconi anemia, complementation group C by Baylor Genetics

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Total variants: 20
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HGVS dbSNP
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
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.360_361TA[1] (p.Ile121fs) rs1588220728
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.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.897-1G>A rs1588101086

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