ClinVar Miner

List of variants in gene KCNJ11 reported as uncertain significance 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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr) rs77131926 0.00020
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531 0.00011
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_000525.4(KCNJ11):c.-54C>T rs1016780684 0.00010
NM_000525.4(KCNJ11):c.*218G>T rs886048039 0.00009
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met) rs770375846 0.00008
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser) rs72554079 0.00008
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160 0.00006
NM_000525.4(KCNJ11):c.86G>A (p.Arg29His) rs988002138 0.00006
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His) rs770609243 0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) rs750778014 0.00003
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile) rs149667199 0.00003
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851 0.00002
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu) rs756424776 0.00002
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His) rs745379486 0.00001
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu) rs114613745 0.00001
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile) rs371977895 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His) rs1266231295 0.00001
NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val) rs754683593 0.00001
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.-150G>A rs886048043
NM_000525.4(KCNJ11):c.1033A>G (p.Thr345Ala)
NM_000525.4(KCNJ11):c.1060A>G (p.Ser354Gly)
NM_000525.4(KCNJ11):c.1096G>A (p.Gly366Arg)
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys) rs543286136
NM_000525.4(KCNJ11):c.1105C>A (p.Arg369Ser)
NM_000525.4(KCNJ11):c.110C>G (p.Ser37Cys)
NM_000525.4(KCNJ11):c.1121C>G (p.Pro374Arg)
NM_000525.4(KCNJ11):c.190G>T (p.Val64Leu)
NM_000525.4(KCNJ11):c.212C>T (p.Thr71Ile)
NM_000525.4(KCNJ11):c.224T>A (p.Phe75Tyr)
NM_000525.4(KCNJ11):c.293G>A (p.Gly98Asp)
NM_000525.4(KCNJ11):c.325C>T (p.Pro109Ser)
NM_000525.4(KCNJ11):c.344A>G (p.His115Arg)
NM_000525.4(KCNJ11):c.430C>G (p.Leu144Val)
NM_000525.4(KCNJ11):c.433G>T (p.Ala145Ser)
NM_000525.4(KCNJ11):c.46C>T (p.Arg16Cys)
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
NM_000525.4(KCNJ11):c.628A>G (p.Ile210Val)
NM_000525.4(KCNJ11):c.62C>T (p.Pro21Leu)
NM_000525.4(KCNJ11):c.635G>A (p.Ser212Asn)
NM_000525.4(KCNJ11):c.655G>T (p.Val219Leu)
NM_000525.4(KCNJ11):c.65C>T (p.Ala22Val)
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.719T>C (p.Met240Thr)
NM_000525.4(KCNJ11):c.730G>A (p.Val244Met)
NM_000525.4(KCNJ11):c.733G>T (p.Gly245Cys)
NM_000525.4(KCNJ11):c.758C>T (p.Ala253Val)
NM_000525.4(KCNJ11):c.814C>T (p.Pro272Ser)
NM_000525.4(KCNJ11):c.817A>G (p.Ser273Gly)
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile) rs761575495
NM_000525.4(KCNJ11):c.943T>G (p.Phe315Val)
NM_000525.4(KCNJ11):c.973C>T (p.Arg325Cys)

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.