ClinVar Miner

List of variants in gene CDKL5 reported by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 9
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NM_001323289.2(CDKL5):c.1591A>G (p.Thr531Ala) rs778464010
NM_001323289.2(CDKL5):c.1897C>T (p.Gln633Ter) rs863225065
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2384A>C (p.Asn795Thr) rs863225067
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.555-19C>G rs75057928

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