ClinVar Miner

List of variants studied for hyperinsulinism by New York Genome Center

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: 32

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.483+26C>A	rs142668032	0.00048
NM_000352.6(ABCC8):c.3989-9G>A	rs151344623	0.00019
NM_000352.6(ABCC8):c.823-8C>T	rs201000679	0.00014
NM_000162.5(GCK):c.649G>A (p.Asp217Asn)	rs147065275	0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=)	rs193922318	0.00011
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp)	rs1014454531	0.00011
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)	rs367974472	0.00010
NM_000352.6(ABCC8):c.375C>G (p.His125Gln)	rs60637558	0.00008
NM_000352.6(ABCC8):c.647G>A (p.Arg216His)	rs199702708	0.00006
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)	rs59852838	0.00005
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)	rs761748692	0.00005
NM_000352.6(ABCC8):c.4412-4T>G	rs1476016104	0.00002
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile)	rs775776658	0.00001
NM_000352.6(ABCC8):c.3661C>T (p.Arg1221Trp)	rs567382793	0.00001
NM_000162.5(GCK):c.278A>C (p.Glu93Ala)
NM_000162.5(GCK):c.835G>C (p.Glu279Gln)	rs104894005
NM_000352.6(ABCC8):c.1012-7C>G
NM_000352.6(ABCC8):c.1332+3A>G
NM_000352.6(ABCC8):c.1468-52G>A
NM_000352.6(ABCC8):c.1571C>T (p.Thr524Met)
NM_000352.6(ABCC8):c.1672-473T>G
NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser)
NM_000352.6(ABCC8):c.2105G>A (p.Arg702His)
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
NM_000352.6(ABCC8):c.2684A>T (p.His895Leu)
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)	rs146695489
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	rs151344624
NM_000352.6(ABCC8):c.421G>A (p.Val141Met)
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)	rs2133792192
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met)	rs2133874774
NM_005271.5(GLUD1):c.446-5634T>C	rs1841280208

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