ClinVar Miner

List of variants reported as uncertain significance for maturity-onset diabetes of the young by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (43):

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; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2
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
Diabetes mellitus, transient neonatal, 3; 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; Diabetes mellitus, permanent neonatal 4
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

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met)	rs1401743626	0.00002
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp)	rs2034119580
NM_000545.8(HNF1A):c.1731C>A (p.His577Gln)	rs1877319456

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.