List of variants reported as likely pathogenic for 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 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)	rs267607196	0.00003
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)	rs141145502	0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)	rs766891274	0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)	rs1479483693	0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)	rs104894248	0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)	rs780957825	0.00001
NM_000525.4(KCNJ11):c.1030_1031del (p.Cys344fs)
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)	rs1001873841
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)	rs879253757
NM_000525.4(KCNJ11):c.406C>A (p.Arg136Ser)	rs766891274
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)	rs750414160
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys)	rs377091338

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.