ClinVar Miner

List of variants studied for Hereditary cerebral amyloid angiopathy, Icelandic type

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000099.4(CST3):c.73G>A (p.Ala25Thr) rs1064039 0.20062
NM_000099.4(CST3):c.212G>A (p.Arg71His) rs11542360 0.00001
NM_000099.4(CST3):c.196_198del (p.Asp66del) rs2515348796
NM_000099.4(CST3):c.281T>A (p.Leu94Gln) rs28939068
NM_000099.4(CST3):c.340C>T (p.Gln114Ter) rs1600363764
NM_000099.4(CST3):c.376C>T (p.Gln126Ter) rs2515343230

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