ClinVar Miner

List of variants studied for autosomal dominant hyperinsulinism due to Kir6.2 deficiency by Athena Diagnostics

Included ClinVar conditions (5):

Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2
Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)	rs5219	0.72048
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

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.