ClinVar Miner

List of variants studied for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (10):

Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CARASIL syndrome
CARASIL syndrome; Age related macular degeneration 7; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Sneddon syndrome; Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Vascular dementia

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)	rs199638166	0.00011
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)	rs201118034	0.00010
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)	rs769773673	0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)	rs144163298	0.00004
NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe)	rs1210611177	0.00001
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
NM_000435.3(NOTCH3):c.1791C>G (p.Cys597Trp)
NM_000435.3(NOTCH3):c.2723T>A (p.Phe908Tyr)
NM_000435.3(NOTCH3):c.457C>A (p.Arg153Ser)
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
NM_000435.3(NOTCH3):c.6620G>A (p.Arg2207Gln)
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)	rs137852641
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg)	rs766433250

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.