ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Elsea Laboratory,Baylor College of Medicine

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_001370658.1(BTD):c.-148C>T rs774964227

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.