ClinVar Miner

List of variants studied for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy by UniProtKB/Swiss-Prot

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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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002775.5(HTRA1):c.889G>A (p.Val297Met)	rs113993969	0.00001
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr)	rs113993968

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