ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000158.4(GBE1):c.691+2T>C rs192044702
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228

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.