ClinVar Miner

List of variants reported as likely pathogenic for Early infantile epileptic encephalopathy 10

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Total variants: 3
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HGVS dbSNP
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913

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