ClinVar Miner

List of variants reported as uncertain significance for Early infantile epileptic encephalopathy 2 by RettBASE

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Total variants: 4
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NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547

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