ClinVar Miner

List of variants in gene KCNJ11 reported as benign for diazoxide-resistant focal hyperinsulinism

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000525.4(KCNJ11):c.*441T>C rs2285676 0.43747
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000525.4(KCNJ11):c.*62G>A rs5213

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.