ClinVar Miner

List of variants studied for hyperinsulinism by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (31):

Atopic eczema; Hypertrichosis; Hypoglycemia; Hyperinsulinemia
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Congenital isolated hyperinsulinism
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Deficiency of 3-hydroxyacyl-CoA dehydrogenase; Hyperinsulinemic hypoglycemia, familial, 4
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
Exercise-induced hyperinsulinism
Familial hyperinsulinism
Hyperinsulinemia
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinism due to HNF1A deficiency
Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to INSR deficiency
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism-hyperammonemia syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency
Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome
Metabolic myopathy due to lactate transporter defect; Exercise-induced hyperinsulinism; Ketoacidosis due to monocarboxylate transporter-1 deficiency
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
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
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)	rs562680077	0.00008
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	rs547150342
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)	rs1954765607
NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro)	rs1591695840
NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)
NM_005327.7(HADH):c.132G>A (p.Gln44=)

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