ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by Pars Genome Lab

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786

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.