ClinVar Miner

List of variants studied for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 by Molecular Genetics, Royal Melbourne Hospital

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.3806G>T (p.Gly1269Val)	rs781401262	0.00004
NM_002775.5(HTRA1):c.1423C>G (p.Pro475Ala)	rs769157908	0.00002
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)	rs777751303	0.00001
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys)	rs1250956327	0.00001
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)	rs1599391536
NM_000435.3(NOTCH3):c.1676G>A (p.Cys559Tyr)	rs2145433195
NM_000435.3(NOTCH3):c.2791A>T (p.Ser931Cys)	rs2145423783
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	rs775836288

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