ClinVar Miner

List of variants in gene ALG9 studied for ALG9-CDG

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
ALG9, GLU359LYS
NM_001077691.2(ALG9):c.1025C>T (p.Pro342Leu) rs185149177
NM_024740.2(ALG9):c.129C>T (p.Thr43=) rs1311317470
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) rs121908022
NM_024740.2(ALG9):c.1659C>T (p.Pro553=) rs2276263
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) rs1555064204
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760
NM_024740.2(ALG9):c.406-7C>T rs45574638
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204
NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys) rs121908023
NM_024740.2(ALG9):c.896-3C>T rs782063335
NM_024740.2(ALG9):c.[1173+2T>A];[1173+2T>A] rs786205134

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.