ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as likely benign for Early infantile epileptic encephalopathy 2; Angelman syndrome-like

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Total variants: 4
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NM_000330.4(RS1):c.326+1093_326+1094del rs1555957573
NM_003159.2(CDKL5):c.2784G>A (p.Thr928=) rs369383134
NM_003159.2(CDKL5):c.2841G>A (p.Pro947=) rs368344738
NM_003159.2(CDKL5):c.3059C>A (p.Thr1020Lys) rs757994307

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