List of variants in gene FANCC reported as likely pathogenic by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
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.-79+1G>A	rs1228886763	0.00001
NM_000136.3(FANCC):c.108_109dup (p.His37fs)	rs1057517131	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.117del (p.Gln40fs)	rs1057517147
NM_000136.3(FANCC):c.165+1del	rs1554858249
NM_000136.3(FANCC):c.251-2A>C	rs1057517219
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)	rs777918411
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter)	rs1057516384
NM_000136.3(FANCC):c.345+1del	rs1057516247
NM_000136.3(FANCC):c.3G>T (p.Met1Ile)	rs1368374192
NM_000136.3(FANCC):c.455dup (p.Asn152fs)	rs774170058
NM_000136.3(FANCC):c.457-1G>T	rs1057516917
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.5dup (p.Gln3fs)	rs1268491295

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