ClinVar Miner

List of variants reported as pathogenic for CDKL5 disorder by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (4):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.453del (p.Cys152fs)	rs1555949763
NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)	rs2518857411
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)	rs2518868022

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