List of variants in gene CDKL5 reported as likely pathogenic by Génétique des Maladies du Développement, Hospices Civils de Lyon

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001037343.1:c.100-?_744+?dup
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn)	rs1602263431
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe)	rs1569213917
NM_001323289.2(CDKL5):c.632T>C (p.Phe211Ser)	rs2147148081

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