ClinVar Miner

List of variants in gene INSR reported as likely 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: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000208.4(INSR):c.783C>T (p.Asp261=)	rs891087	0.11869
NM_000208.4(INSR):c.2643C>T (p.Ile881=)	rs2229432	0.01903
NM_000208.4(INSR):c.653-7del	rs766817873	0.01724
NM_000208.4(INSR):c.1989G>A (p.Ala663=)	rs36081066	0.01045
NM_000208.4(INSR):c.1098T>C (p.Ser366=)	rs2229435	0.00988
NM_000208.4(INSR):c.2718T>C (p.Ala906=)	rs2229433	0.00891
NM_000208.4(INSR):c.262T>C (p.Leu88=)	rs61736580	0.00797
NM_000208.4(INSR):c.2683-5C>T	rs41306363	0.00664
NM_000208.4(INSR):c.618C>T (p.Val206=)	rs56012021	0.00580
NM_000208.4(INSR):c.870C>T (p.His290=)	rs74483718	0.00416
NM_000208.4(INSR):c.2193G>A (p.Thr731=)	rs6413501	0.00350
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile)	rs150114699	0.00307
NM_000208.4(INSR):c.1080C>T (p.Cys360=)	rs56066516	0.00183
NM_000208.4(INSR):c.2682+9C>G	rs41398545	0.00145
NM_000208.4(INSR):c.2736G>A (p.Arg912=)	rs147125937	0.00134
NM_000208.4(INSR):c.687C>T (p.Thr229=)	rs150568177	0.00111
NM_000208.4(INSR):c.190T>C (p.Leu64=)	rs144836032	0.00092
NM_000208.4(INSR):c.2793G>A (p.Ala931=)	rs111502197	0.00088
NM_000208.4(INSR):c.2295C>T (p.Gly765=)	rs142654992	0.00058
NM_000208.4(INSR):c.225C>T (p.Asp75=)	rs41352749	0.00011
NM_000208.4(INSR):c.2829C>T (p.Tyr943=)	rs376766937	0.00008
NM_000208.4(INSR):c.624A>G (p.Arg208=)	rs759705666	0.00001
NM_000208.4(INSR):c.653-9_653-7delinsC	rs1568470641

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