ClinVar Miner

List of variants reported as likely pathogenic for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy by Molecular Genetics, Royal Melbourne Hospital

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys)	rs1250956327	0.00001
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)	rs1599391536
NM_000435.3(NOTCH3):c.1676G>A (p.Cys559Tyr)	rs2145433195

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