ClinVar Miner

List of variants studied for type 2 diabetes mellitus by OMIM

Included ClinVar conditions (37):

Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome
Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome
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, noninsulin-dependent, 1
Diabetes mellitus, noninsulin-dependent, association with
Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3
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
Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mellitus
Insulin resistance, severe, digenic
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 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; Type 2 diabetes mellitus
Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus
PPARG-related familial partial lipodystrophy; Carotid intimal medial thickness 1; Type 2 diabetes mellitus; Obesity
PPARG-related familial partial lipodystrophy; Type 2 diabetes mellitus
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; 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; Type 2 diabetes mellitus
Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma
Type 2 diabetes mellitus
Type 2 diabetes mellitus; Fanconi-Bickel syndrome
Type 2 diabetes mellitus; High density lipoprotein cholesterol level quantitative trait locus 12; Hyperlipidemia due to hepatic triglyceride lipase deficiency
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; Hypoinsulinemic hypoglycemia and body hemihypertrophy
Type 2 diabetes mellitus; Hypotrichosis 13; Wooly hair, autosomal recessive 3
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 2
Type 2 diabetes mellitus; Obesity; Hyperlipidemia; Diabetes mellitus; Hypertensive disorder; Class III obesity
Type 2 diabetes mellitus; Short stature; Cataract; Convex nasal ridge; Mask-like facies; Decreased body weight
Wolfram syndrome 1; Type 2 diabetes mellitus

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006005.3(WFS1):c.461-9A>G	rs10010131	0.63169
NM_006005.3(WFS1):c.713-1075C>G	rs6446482	0.62564
NM_017774.3(CDKAL1):c.371+11426A>C	rs10946398	0.40537
NM_017774.3(CDKAL1):c.371+30101A>G	rs7756992	0.37650
NM_003749.3(IRS2):c.3170G>A (p.Gly1057Asp)	rs1805097	0.28401
NM_000160.5(GCGR):c.118G>A (p.Gly40Ser)	rs1801483	0.00636
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)	rs1799816	0.00500
NM_001042.3(SLC2A4):c.1147G>A (p.Val383Ile)	rs121434581	0.00405
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs)	rs527638422	0.00279
NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp)	rs114202595	0.00013
NM_173851.3(SLC30A8):c.412C>T (p.Arg138Ter)	rs200185429	0.00010
NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln)	rs121913150	0.00001
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile)	rs137853337	0.00001
NM_000162.5(GCK):c.556C>T (p.Arg186Ter)	rs104894006
NM_000352.6(ABCC8):c.1744C>G (p.Leu582Val)	rs137852674
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)	rs137852673
NM_000408.5(GPD2):c.1904T>C (p.Phe635Ser)	rs121918407
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
NM_001626.6(AKT2):c.821G>A (p.Arg274His)	rs121434593
NM_002500.5(NEUROD1):c.332G>T (p.Arg111Leu)	rs104893649
NM_003749.3(IRS2):c.1939C>G (p.Leu647Val)	rs137852740
NM_005544.3(IRS1):c.1823C>G (p.Thr608Arg)	rs104893642
NM_005544.3(IRS1):c.2164GGT[1] (p.Gly723del)	rs1259467443
NM_173851.3(SLC30A8):c.101_107del (p.Lys34fs)	rs587777582

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