ClinVar Miner

List of variants reported as pathogenic for Early myoclonic encephalopathy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter) rs797045969
NM_001191061.2(SLC25A22):c.813_814del (p.Ala272fs) rs1565035177
NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys) rs1195505218
NM_012281.3(KCND2):c.1096G>T (p.Val366Phe)
NM_012281.3(KCND2):c.1207C>G (p.Pro403Ala) rs1792826036
NM_012281.3(KCND2):c.1208C>T (p.Pro403Leu) rs750457269
NM_012281.3(KCND2):c.1210G>A (p.Val404Met) rs587777631
NM_012281.3(KCND2):c.913C>T (p.Arg305Cys) rs1236737877

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