List of variants in gene combination AOPEP, FANCC reported as likely pathogenic by GeneDx

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.843+5G>A	rs369082921	0.00006
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)	rs944083227	0.00001
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)	rs867319477	0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)	rs769039987	0.00001
NM_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs)	rs1064795597
NM_000136.3(FANCC):c.1154+2dup	rs1386979449
NM_000136.3(FANCC):c.1155-1G>C	rs1554829575
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)	rs765551897
NM_000136.3(FANCC):c.1317_1318del (p.Arg439fs)
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)	rs2134456127
NM_000136.3(FANCC):c.522-1G>A
NM_000136.3(FANCC):c.595del (p.Leu199fs)	rs1057519366
NM_000136.3(FANCC):c.595dup (p.Leu199fs)	rs1057519366
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)	rs776054094
NM_000136.3(FANCC):c.896+2T>G	rs863224441

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