List of variants in gene DDX3X reported by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys)	rs1555951993
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His)	rs796052235
NM_001356.5(DDX3X):c.147del (p.Gly51fs)	rs1602122237
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs)	rs1602136369
NM_001356.5(DDX3X):c.1806C>G (p.Tyr602Ter)	rs2063939905
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter)	rs2147340483
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)	rs1602131859
NM_001356.5(DDX3X):c.833dup (p.Leu278fs)	rs1602131872
NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro)	rs1602132216

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.