ClinVar Miner

List of variants in gene ABCC8 reported as likely pathogenic for Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 2; Persistent hyperinsulinemic hypoglycemia of infancy; Leucine-induced hypoglycemia; Diabetes mellitus type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_000352.5(ABCC8):c.290+2T>C rs1554948310
NM_000352.5(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.5(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715

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.