List of variants in gene CDKL5 reported as pathogenic by Mendelics

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

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs)	rs1602286391
NM_001323289.2(CDKL5):c.145+1G>A	rs2147132274
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter)	rs751789670
NM_001323289.2(CDKL5):c.1742dup (p.His581fs)	rs1602286792
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter)	rs1602286899
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter)	rs1602298653
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter)	rs863225289
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter)	rs2147139684
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs)	rs2147142645
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg)	rs863225290
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr)	rs1602271692
NM_001323289.2(CDKL5):c.386del (p.Asn129fs)	rs1602271718
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter)	rs267608477
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val)	rs2147148055
NM_001323289.2(CDKL5):c.906del (p.Leu303fs)	rs2147156191
NM_001323289.2(CDKL5):c.978-1G>A	rs2147160087

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