ClinVar Miner

List of variants in gene KCNJ11 reported as likely pathogenic for type 2 diabetes mellitus

Included ClinVar conditions (37):

Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma
Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus
Diabetes mellitus, noninsulin-dependent, 1
Diabetes mellitus, noninsulin-dependent, association with
Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3
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, 1; Type 2 diabetes mellitus
Insulin resistance, severe, digenic
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 4; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus
PPARG-related familial partial lipodystrophy; Carotid intimal medial thickness 1; Type 2 diabetes mellitus; Obesity
PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus
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
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 2
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma
Type 2 diabetes mellitus
Type 2 diabetes mellitus; Fanconi-Bickel syndrome
Type 2 diabetes mellitus; High density lipoprotein cholesterol level quantitative trait locus 12; Hyperlipidemia due to hepatic triglyceride lipase deficiency
Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2
Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1
Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia and body hemihypertrophy
Type 2 diabetes mellitus; Hypotrichosis 13; Wooly hair, autosomal recessive 3
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 2
Type 2 diabetes mellitus; Obesity; Hyperlipidemia; Diabetes mellitus; Hypertensive disorder; Class III obesity
Type 2 diabetes mellitus; Short stature; Cataract; Convex nasal ridge; Mask-like facies; Decreased body weight
Wolfram syndrome 1; Type 2 diabetes mellitus

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

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)	rs267607196	0.00003
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)	rs954727530	0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)	rs141145502	0.00001
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys)	rs375848765	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.761C>T (p.Pro254Leu)	rs104894237	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.165C>A (p.Phe55Leu)
NM_000525.4(KCNJ11):c.270G>A (p.Trp90Ter)
NM_000525.4(KCNJ11):c.286G>A (p.Ala96Thr)
NM_000525.4(KCNJ11):c.368del (p.Phe123fs)
NM_000525.4(KCNJ11):c.399del (p.Phe133fs)
NM_000525.4(KCNJ11):c.491_494dup (p.Cys166fs)
NM_000525.4(KCNJ11):c.637G>A (p.Ala213Thr)
NM_000525.4(KCNJ11):c.639del (p.Thr214fs)
NM_000525.4(KCNJ11):c.703C>T (p.Gln235Ter)
NM_000525.4(KCNJ11):c.718dup (p.Met240fs)	rs1554901718
NM_000525.4(KCNJ11):c.808del (p.Leu270fs)
NM_000525.4(KCNJ11):c.816_829del (p.Ser273fs)
NM_000525.4(KCNJ11):c.844G>T (p.Glu282Ter)
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala)	rs797045637
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)	rs750414160
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys)	rs193929356
NM_000525.4(KCNJ11):c.991_992del (p.Ser331fs)
NM_000525.4(KCNJ11):c.993dup (p.Lys332fs)

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