ClinVar Miner

List of variants in gene ALG11 reported as pathogenic for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser) rs267606652
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs) rs387907180
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser) rs387907181
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro) rs387907184

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.