ClinVar Miner

List of variants reported as uncertain significance for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (7):

Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
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 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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)	rs199638166	0.00011
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.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)

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