ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic by Mendelics

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Total variants: 2
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NM_003159.2(CDKL5):c.2713+3C>T rs863225289
NM_003159.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290

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