ClinVar Miner

List of variants in gene TLR3 reported as risk factor for central nervous system infectious disorder

Included ClinVar conditions (16):

CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
Encephalopathy, acute, infection-induced, susceptibility to, 4
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Herpes simplex encephalitis, susceptibility to, 1
Herpes simplex encephalitis, susceptibility to, 3
Herpes simplex encephalitis, susceptibility to, 4
Huntington disease-like 1
Immunodeficiency 83, susceptibility to viral infections
Inherited Creutzfeldt-Jakob disease
Inherited Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker syndrome; Fatal familial insomnia; Huntington disease-like 1; Kuru, susceptibility to; Spongiform encephalopathy with neuropsychiatric features
Primary open angle glaucoma; Herpes simplex encephalitis, susceptibility to, 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
Spongiform encephalopathy with neuropsychiatric features
Susceptibility to HIV infection; Immunodeficiency 83, susceptibility to viral infections

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003265.3(TLR3):c.889C>G (p.Leu297Val)	rs35311343	0.00165
NM_003265.3(TLR3):c.2224C>T (p.Leu742Phe)	rs147431766	0.00153
NM_003265.3(TLR3):c.2600G>A (p.Arg867Gln)	rs199768900	0.00061
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser)	rs121434431	0.00053
NM_003265.3(TLR3):c.1079T>C (p.Leu360Pro)	rs768091235	0.00003
NM_003265.3(TLR3):c.597A>T (p.Leu199Phe)	rs753482575	0.00003
NM_003265.2(TLR3):c.[2228G>A;2432G>T]
NM_003265.3(TLR3):c.2039C>T (p.Pro680Leu)	rs2150068111
NM_003265.3(TLR3):c.2236G>T (p.Glu746Ter)	rs1554064929

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.