List of variants in gene combination AOPEP, FANCC reported as pathogenic for Fanconi anemia complementation group C

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: 33

Download table as spreadsheet

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.1417C>T (p.Gln473Ter)	rs1410356625	0.00001
NM_000136.3(FANCC):c.1533+1G>C	rs753885687	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.1002del (p.Phe335fs)	rs2134694075
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	rs759900071
NM_000136.3(FANCC):c.1154+1del
NM_000136.3(FANCC):c.1155-1G>C	rs1554829575
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)	rs2071939263
NM_000136.3(FANCC):c.1257del (p.Thr420fs)	rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)	rs765551897
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)	rs1057516298
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)	rs2134456127
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)	rs1035139114
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg)	rs121917785
NM_000136.3(FANCC):c.1494T>G (p.Ala498=)	rs76895298
NM_000136.3(FANCC):c.1550dup (p.Ile518fs)	rs2071089000
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)	rs794726667
NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter)	rs2071086256
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter)	rs2134382250
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	rs370974124
NM_000136.3(FANCC):c.662del (p.Glu221fs)	rs1830058898
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.996+1G>A	rs370510954
NM_000136.3(FANCC):c.996G>A (p.Gln332=)	rs1825770865

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.