ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139

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.