ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy, early infantile, 26

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Total variants: 5
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HGVS dbSNP
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) rs1555889103
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys) rs886039396

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