ClinVar Miner

List of variants in gene FUT8 reported as uncertain significance for congenital disorder of glycosylation with defective fucosylation

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371533.1(FUT8):c.222T>G (p.Ile74Met) rs368415291 0.00004
NM_001371533.1(FUT8):c.1406C>T (p.Ser469Phe) rs2139388052
NM_001371533.1(FUT8):c.1675C>T (p.Arg559Ter) rs769250336
NM_001371533.1(FUT8):c.1691C>T (p.Thr564Met)

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.