ClinVar Miner

List of variants studied for hyperinsulinemic hypoglycemia by Revvity Omics, Revvity

Included ClinVar conditions (32):

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
Global developmental delay; Recurrent infections; Anemia; Liver failure; Hyperinsulinemic hypoglycemia; Acute kidney injury; Cholestatic liver disease
Hyperinsulinemic hypoglycemia
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
Hyperinsulinemic hypoglycemia, familial, 8
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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)

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