ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 8
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NM_001323289.2(CDKL5):c.146-1G>A rs587783399
NM_001323289.2(CDKL5):c.1471dup (p.Ala491fs) rs1602286449
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.2432del (p.Ala811fs)
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.766C>T (p.Gln256Ter) rs1555951142
NM_001323289.2(CDKL5):c.989_1010del (p.Gly330fs)

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