ClinVar Miner

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

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Gene type:
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Total variants: 4
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HGVS dbSNP
NC_000023.10:g.(?_18643248)_(18646707_?)del
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_003159.2(CDKL5):c.1897C>T (p.Gln633Ter) rs863225065
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493

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