ClinVar Miner

List of variants reported as pathogenic for maturity-onset diabetes of the young type 2 by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (6):

Maturity-onset diabetes of the young type 2
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; 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
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 2

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.556C>T (p.Arg186Ter)	rs104894006
NM_000162.5(GCK):c.751A>G (p.Met251Val)	rs2128820620

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