ClinVar Miner

List of variants reported as uncertain significance for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy by Mendelics

Included ClinVar conditions (11):

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
CARASIL syndrome; 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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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)	rs201680145	0.00049
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)	rs141956294	0.00027
NM_000435.3(NOTCH3):c.4320C>G (p.Ser1440Arg)	rs776057654

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