ClinVar Miner

List of variants reported as likely pathogenic for maturity-onset diabetes of the young by 3billion, Medical Genetics

Included ClinVar conditions (40):

Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma
Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus
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
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13
Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young; Hyperglycemia
Maturity-onset diabetes of the young type 1
Maturity-onset diabetes of the young type 10
Maturity-onset diabetes of the young type 11
Maturity-onset diabetes of the young type 13
Maturity-onset diabetes of the young type 14
Maturity-onset diabetes of the young type 1; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Maturity-onset diabetes of the young type 2
Maturity-onset diabetes of the young type 3
Maturity-onset diabetes of the young type 4
Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1
Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 4; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 6
Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 7
Maturity-onset diabetes of the young type 8
Maturity-onset diabetes of the young type 9
Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus
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
Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 2
Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4
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 13
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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)	rs1085307455	0.00001
NM_000162.5(GCK):c.107G>C (p.Arg36Pro)	rs193922261
NM_000162.5(GCK):c.1251del (p.Ser418fs)	rs2128819092
NM_000162.5(GCK):c.671T>C (p.Met224Thr)	rs2128821476
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)	rs794727839
NM_175914.5(HNF4A):c.179G>T (p.Gly60Val)	rs2146368271

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