ClinVar Miner

List of variants in gene USP9X reported as likely pathogenic for Intellectual disability, X-linked 99

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001039591.3(USP9X):c.1028T>C (p.Leu343Ser)
NM_001039591.3(USP9X):c.1315-4A>G rs1057522024
NM_001039591.3(USP9X):c.1333A>G (p.Ile445Val)
NM_001039591.3(USP9X):c.1511C>T (p.Ala504Val) rs2519156202
NM_001039591.3(USP9X):c.323-1G>A rs5918118
NM_001039591.3(USP9X):c.3559-1G>C rs2147163808
NM_001039591.3(USP9X):c.3905C>T (p.Ala1302Val) rs2147171235
NM_001039591.3(USP9X):c.5198G>A (p.Cys1733Tyr) rs2519366750
NM_001039591.3(USP9X):c.5357T>C (p.Ile1786Thr)
NM_001039591.3(USP9X):c.539C>T (p.Pro180Leu)
NM_001039591.3(USP9X):c.5636ATT[2] (p.Tyr1881del) rs2519371283
NM_001039591.3(USP9X):c.6254G>A (p.Arg2085His) rs2147251154

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.