ClinVar Miner

List of variants studied for ALG1-congenital disorder of glycosylation by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_019109.5(ALG1):c.1129A>G (p.Met377Val) rs387906925 0.00001
NM_019109.5(ALG1):c.450C>G (p.Ser150Arg) rs121908340 0.00001
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
NM_019109.5(ALG1):c.1188T>A (p.Cys396Ter) rs387906927
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926

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.