ClinVar Miner

List of variants reported as uncertain significance for Early infantile epileptic encephalopathy 2 by Genetic Services Laboratory,University of Chicago

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Total variants: 7
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NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403

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