ClinVar Miner

List of variants reported as pathogenic for Early infantile epileptic encephalopathy 2 by Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital

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Total variants: 1
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HGVS dbSNP
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715

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