ClinVar Miner

List of variants in gene NUBPL reported as pathogenic for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440
NM_025152.3(NUBPL):c.351G>A (p.Met117Ile)
NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe) rs552722349
NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer) rs879255565
NM_025152.3(NUBPL):c.693+1G>A rs751631278
NM_025152.3(NUBPL):c.726C>G (p.Phe242Leu) rs767543623

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.