ClinVar Miner

List of variants reported as uncertain significance for Early infantile epileptic encephalopathy 2 by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 4
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NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln)
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro)
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_003159.2(CDKL5):c.2767C>T (p.Arg923Cys) rs267608664

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