List of variants in gene combination AOPEP, FANCC reported as pathogenic for Hereditary cancer-predisposing syndrome

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: 29

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HGVS	dbSNP	gnomAD frequency
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.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	rs730881709	0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_000136.3(FANCC):c.843+1G>A	rs587779909	0.00002
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)	rs944083227	0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	rs1410356625	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.1060C>T (p.Gln354Ter)
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	rs759900071
NM_000136.3(FANCC):c.1173dup (p.Glu392Ter)
NM_000136.3(FANCC):c.1233dup (p.Leu412fs)
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)	rs2134548133
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)	rs1057516298
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)	rs730881710
NM_000136.3(FANCC):c.595del (p.Leu199fs)	rs1057519366
NM_000136.3(FANCC):c.595dup (p.Leu199fs)	rs1057519366
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)	rs374176091
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter)	rs1588134571
NM_000136.3(FANCC):c.760del (p.Met254fs)
NM_000136.3(FANCC):c.836C>A (p.Ser279Ter)	rs1588134180
NM_000136.3(FANCC):c.843+1G>T	rs587779909
NM_000136.3(FANCC):c.863del (p.Pro288fs)	rs2134968283
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)	rs776529713
NM_000136.3(FANCC):c.954del (p.Phe318fs)
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)	rs1825775052

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