ClinVar Miner

List of variants reported as likely pathogenic for hyperinsulinism due to glucokinase deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):

Hyperinsulinism due to glucokinase deficiency
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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)	rs1131691416
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)	rs193922283
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)	rs142952813
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)	rs193922335

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