ClinVar Miner

List of variants reported as likely 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: 7
Download table as spreadsheet
HGVS dbSNP
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_021957.4(GYS2):c.1230-1G>A rs766733439

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.