ClinVar Miner

List of variants reported as pathogenic for CDKL5 disorder by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (2):

Early infantile epileptic encephalopathy 2
Early infantile epileptic encephalopathy 2; Angelman syndrome-like

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP
NM_003159.2(CDKL5):c.453delG (p.Cys152Valfs)	rs1555949763

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