ClinVar Miner

List of variants reported as uncertain significance 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: 4
Download table as spreadsheet
HGVS dbSNP
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val) rs758570060
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698

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.