ClinVar Miner

List of variants studied for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser)	rs767150916
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)	rs137852642
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)

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