ClinVar Miner

List of variants in gene combination EPM2A, FBXO30-DT reported as uncertain significance for Progressive myoclonic epilepsy

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Total variants: 17
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NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr) rs763719276
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu) rs1229724993
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly)
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) rs550455609
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256
NM_005670.4(EPM2A):c.241G>A (p.Val81Met) rs747386643
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln) rs767203075
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser)
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del)
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu) rs1060503233
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg) rs1554269710
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu) rs796052433
NM_005670.4(EPM2A):c.92G>A (p.Arg31His) rs1562535536
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg) rs104893955

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