List of variants in gene MECP2 reported as pathogenic by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)	rs267608571
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)	rs267608597
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	rs61752992
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	rs61748421
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	rs28935468
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444

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