ClinVar Miner

List of variants reported as pathogenic for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) rs201305795 0.00001
NM_002775.5(HTRA1):c.175_178del (p.Arg59fs)
NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu) rs864622781
NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) rs781563777
NM_002775.5(HTRA1):c.543del (p.Ala182fs) rs1273355332
NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg) rs864622782
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) rs1554952291
NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln) rs2133449474
NM_002775.5(HTRA1):c.973-1G>A rs864622783

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