ClinVar Miner

List of variants studied for Fanconi anemia complementation group E by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) rs45524646
NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) rs587778335
NM_021922.2(FANCE):c.298T>A (p.Ser100Thr) rs768911543
NM_021922.2(FANCE):c.311C>G (p.Ala104Gly) rs773580818
NM_021922.2(FANCE):c.316C>T (p.Arg106Trp) rs759034838
NM_021922.2(FANCE):c.397C>T (p.Leu133Phe) rs759124595
NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) rs552241929

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.