ClinVar Miner

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

Included ClinVar conditions (3):

Angelman syndrome; Early infantile epileptic encephalopathy 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_001323289.2(CDKL5):c.453del (p.Cys152fs)	rs1555949763

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