ClinVar Miner

List of variants reported as likely 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: 8
Download table as spreadsheet
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000203.5(IDUA):c.390del (p.Phe130fs) rs1560545883
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.921del (p.Asn307fs) rs1571243862
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932

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.