ClinVar Miner

List of variants studied for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp)	rs367707092	0.00006
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)	rs775267348	0.00001
NM_000435.3(NOTCH3):c.1790G>C (p.Cys597Ser)
NM_000435.3(NOTCH3):c.3088G>A (p.Gly1030Arg)
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)	rs137852642
NM_000435.3(NOTCH3):c.565T>G (p.Tyr189Asp)
NM_000435.3(NOTCH3):c.629G>A (p.Gly210Asp)
NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter)	rs935487877
NM_000435.3(NOTCH3):c.6904C>T (p.Gln2302Ter)

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