ClinVar Miner

List of variants in gene ALG13 reported as likely benign 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: 7
Download table as spreadsheet
HGVS dbSNP
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=) rs772765360
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val) rs377397506
NM_001099922.3(ALG13):c.1824C>T (p.Asp608=) rs761077008
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632
NM_001099922.3(ALG13):c.456G>A (p.Leu152=) rs762934062
NM_001099922.3(ALG13):c.886-7T>C rs1556488604

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.