List of variants in gene FANCA reported by Mendelics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	rs139235751	0.00230
NM_000135.4(FANCA):c.3348+7G>T	rs185527578	0.00016
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu)	rs938278864	0.00002
NM_000135.4(FANCA):c.3366C>T (p.His1122=)	rs771815968	0.00001
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)	rs886052487	0.00001
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys)	rs1427276212
NM_000135.4(FANCA):c.2222+6G>A	rs2143339557
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)	rs1336033143
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)	rs1183559927
NM_000135.4(FANCA):c.2827G>C (p.Ala943Pro)	rs2143260822
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu)	rs17232246
NM_000135.4(FANCA):c.710-142_710-141dup	rs17232344

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.