List of variants in gene MECP2 reported by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)	rs56268439	0.00308
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)	rs61748381	0.00150
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)	rs146107517	0.00059
NM_001110792.2(MECP2):c.1134C>T (p.His378=)	rs1557135898
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs)	rs61753972
NM_001110792.2(MECP2):c.414-17del	rs61753982
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs)	rs61750241
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	rs28935468

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.