ClinVar Miner

List of variants in gene combination ABCC8, LOC110121471 reported as likely benign for diazoxide-resistant hyperinsulinism

Included ClinVar conditions (10):

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
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, 2
Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13
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

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.2390+123C>T	rs4148631	0.70926
NM_000352.6(ABCC8):c.2390+93C>T	rs4148630	0.70902
NM_000352.6(ABCC8):c.2390+17G>C	rs200705248	0.00035
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)	rs199541853	0.00010
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)	rs202189540	0.00006
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)	rs779736828	0.00002
NM_000352.6(ABCC8):c.2475+19G>A	rs373894772	0.00001
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)	rs766321878

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