ClinVar Miner

List of variants studied for diazoxide-resistant focal hyperinsulinism by Athena Diagnostics Inc

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000352.5(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.5(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.5(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.5(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) rs8175351
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467

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.