List of variants in gene CDKL5 reported as pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs)	rs1926261579
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)	rs786204967
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs)	rs2147160726
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs)	rs1926298368
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter)	rs1926301954
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter)	rs1927139054
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly)	rs1925574557
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)	rs267608501
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter)	rs1925701271

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