ClinVar Miner

List of variants reported as likely pathogenic for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 by MGZ Medical Genetics 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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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.231_248del (p.Gln77_Cys82del)
NM_000435.3(NOTCH3):c.2353C>T (p.Arg785Cys)
NM_000435.3(NOTCH3):c.2815T>C (p.Cys939Arg)
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys)	rs1188569102
NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)
NM_000435.3(NOTCH3):c.3945C>G (p.Cys1315Trp)
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg)	rs1599394806

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