ClinVar Miner

List of variants reported as pathogenic for Progressive myoclonic epilepsy by Invitae

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Total variants: 11
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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
NM_004287.4(GOSR2):c.184A>T (p.Lys62Ter)
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950

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