List of variants in gene FANCE reported as uncertain significance for Fanconi anemia complementation group A

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

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)	rs149097636	0.00098
NM_021922.3(FANCE):c.1114-4G>A	rs368422520	0.00019
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys)	rs371020401	0.00014
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)	rs375195621	0.00013
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly)	rs773580818	0.00007
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr)	rs768911543	0.00005
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu)	rs371485747	0.00003
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys)	rs551170184	0.00002
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp)	rs771767241	0.00002
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)	rs749697038	0.00001
NM_021922.3(FANCE):c.436G>T (p.Val146Leu)	rs755204532	0.00001
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)	rs779336261	0.00001
NM_021922.3(FANCE):c.*729A>G	rs886061334
NM_021922.3(FANCE):c.1276A>G (p.Met426Val)	rs764652720
NM_021922.3(FANCE):c.313G>A (p.Val105Ile)	rs373159305
NM_021922.3(FANCE):c.491T>C (p.Leu164Pro)	rs1767316710
NM_021922.3(FANCE):c.901-5C>A	rs747168225

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.