ClinVar Miner

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

Included ClinVar conditions (6):

Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2
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: 4

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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	0.23002
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)	rs1800467	0.03694
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)	rs8175351	0.01289

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