ClinVar Miner

List of variants reported as uncertain significance for maturity-onset diabetes of the young type 2 by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's 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

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

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_175914.5(HNF4A):c.965T>G (p.Leu322Trp)	rs2146468795

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