ClinVar Miner

List of variants reported as uncertain significance for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy by Institute of Human Genetics, University of Leipzig Medical Center

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)	rs199638166	0.00011
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn)	rs544773641	0.00006
NM_000435.3(NOTCH3):c.2254G>A (p.Asp752Asn)	rs377521258	0.00002
NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)
NM_000435.3(NOTCH3):c.3872G>C (p.Arg1291Pro)	rs2046807438
NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter)	rs1394472516
NM_002775.5(HTRA1):c.910G>C (p.Gly304Arg)
NM_002775.5(HTRA1):c.983C>T (p.Ser328Leu)	rs2133449911

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