ClinVar Miner

List of variants in gene USP9X reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_001039590.2(USP9X):c.1111C>T (p.Arg371Ter) rs869025592
NM_001039590.2(USP9X):c.2554C>T (p.Arg852Ter) rs869025588
NM_001039590.2(USP9X):c.2644_2645insA (p.Arg882Glnfs) rs869025590
NM_001039590.2(USP9X):c.3028_3148del121 rs869025589
NM_001039590.2(USP9X):c.3763C>T (p.Gln1255Ter) rs869025591
NM_001039590.2(USP9X):c.44delA (p.Asn15Thrfs) rs1555917927
NM_001039590.2(USP9X):c.4756delC (p.Ala1587Profs) rs1555930128

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.