ClinVar Miner

List of variants in gene ABCC8, KCNJ11 studied for autosomal dominant hyperinsulinism due to Kir6.2 deficiency

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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.-498T>C	rs529946415	0.00352
NM_000525.4(KCNJ11):c.-154G>T	rs539975714	0.00026
NM_000525.4(KCNJ11):c.-559G>C	rs547932593

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