List of variants reported as pathogenic for Fanconi anemia complementation group G by Natera, Inc.

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004629.2(FANCG):c.1077-2A>G	rs769547477	0.00002
NM_004629.2(FANCG):c.1144-1G>T	rs755363896	0.00002
NM_004629.2(FANCG):c.1480+1G>C	rs149616199	0.00002
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter)	rs779834525	0.00002
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)	rs121434425	0.00001
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)	rs397507560
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter)	rs121434426
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	rs757418016
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs)	rs2131053943
NM_004629.2(FANCG):c.307+1G>C	rs200479612
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter)	rs755361015
NM_004629.2(FANCG):c.620del (p.Leu207fs)	rs753727461
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs)	rs587776640

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.