ClinVar Miner

List of variants in gene CSTB reported as pathogenic for Progressive myoclonic epilepsy

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Total variants: 5
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HGVS dbSNP
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) rs545986367
NM_000100.3(CSTB):c.200_203dup (p.Val69fs)
NM_000100.3(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.3(CSTB):c.67-1G>C rs147484110

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