ClinVar Miner

List of variants in gene FANCA reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
FANCA, IVS7DS, G-A, +5
NM_000135.2(FANCA):c.1007_3066del
NM_000135.2(FANCA):c.1115_1118delTTGG (p.Val372Alafs) rs397507552
NM_000135.2(FANCA):c.1606delT (p.Ser536Glnfs) rs587776570
NM_000135.2(FANCA):c.1615del (p.Asp539Thrfs) rs778507965
NM_000135.2(FANCA):c.894_1006del113 (p.Trp298Cysfs)
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.3(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.3(FANCA):c.3558dup (p.Arg1187Glufs) rs747851434
NM_000135.3(FANCA):c.3720_3724del (p.Glu1240Aspfs) rs794726660
NM_000135.3(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398

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.