List of variants in gene CDKL5 reported as pathogenic by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.1486A>T (p.Lys496Ter)	rs1926283887
NM_001323289.2(CDKL5):c.1852_1853insT (p.Asp618fs)	rs1926303951
NM_001323289.2(CDKL5):c.2182del (p.His728fs)	rs1926616715
NM_001323289.2(CDKL5):c.2355_2358del (p.Lys786fs)	rs1926837956
NM_001323289.2(CDKL5):c.2673_2682del (p.Gln891fs)	rs1927142990
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs)	rs1925420814
NM_001323289.2(CDKL5):c.463+1G>T	rs267608479
NM_001323289.2(CDKL5):c.495dup (p.Ala166fs)	rs1925573011
NM_001323289.2(CDKL5):c.554+1G>A	rs1555950083
NM_001323289.2(CDKL5):c.64+1G>C	rs1922607301
NM_001323289.2(CDKL5):c.744+1G>A	rs1925705674

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