ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000507.4(FBP1):c.1_170del (p.Met1fs) rs1563991556
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter) rs1567526805
NM_000642.3(AGL):c.3481_3589-407del

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.