ClinVar Miner

List of variants in gene HNF4A reported as benign for hyperinsulinemic hypoglycemia

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_175914.5(HNF4A):c.*1132C>T	rs6130615	0.24797
NM_175914.5(HNF4A):c.*392T>G	rs11086926	0.13032
NM_175914.5(HNF4A):c.*2366G>C	rs3212211	0.11643
NM_175914.5(HNF4A):c.*305A>G	rs56343153	0.04078
NM_175914.5(HNF4A):c.*242T>C	rs41282030	0.04068
NM_175914.5(HNF4A):c.135C>T (p.Ala45=)	rs736823	0.03705
NM_175914.5(HNF4A):c.*700T>C	rs114764820	0.02223
NM_175914.5(HNF4A):c.*1832G>A	rs4812832	0.02019
NM_175914.5(HNF4A):c.*2533G>A	rs76705771	0.01679
NM_175914.5(HNF4A):c.*155G>A	rs41280258	0.01170
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)	rs139591750	0.00425
NM_175914.5(HNF4A):c.*7G>A	rs186057842	0.00043
NM_175914.5(HNF4A):c.*906A>C	rs3212210
NM_175914.5(HNF4A):c.*906A>T	rs3212210

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