ClinVar Miner

List of variants reported as likely pathogenic for Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.463T>G (p.Cys155Gly) rs2046933681
NM_000435.3(NOTCH3):c.698G>A (p.Cys233Tyr) rs2145440883
NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser) rs2145439777

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