ClinVar Miner

List of variants in gene CDKL5 reported as likely pathogenic for Early infantile epileptic encephalopathy 2; Angelman syndrome-like

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Total variants: 8
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NM_001323289.2(CDKL5):c.2046+1G>A rs786204976
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met)
NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly)
NM_001323289.2(CDKL5):c.826-2A>G rs1060501859
NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly)

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