ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.6(ABCC8):c.878A>C (p.His293Pro) rs587783175
NM_000525.3(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_001287174.2(ABCC8):c.1332+4del rs587783164
NM_006516.3(SLC2A1):c.1007_1009del (p.Leu336del) rs587784389
NM_006516.3(SLC2A1):c.543C>T (p.Gly181=) rs377674001
NM_006516.3(SLC2A1):c.679+4C>A rs139492241
NM_006516.3(SLC2A1):c.680-10G>T rs587784394
NM_006516.3(SLC2A1):c.777C>T (p.Ile259=) rs78388808

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.