ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy, early infantile, 33

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Total variants: 7
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NM_001958.4(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_001958.4(EEF1A2):c.1150G>C (p.Gly384Arg) rs1555883384
NM_001958.4(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.4(EEF1A2):c.364G>A (p.Glu122Lys) rs786205866
NM_001958.4(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.4(EEF1A2):c.863A>G (p.Glu288Gly) rs1555883501

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