ClinVar Miner

List of variants reported as likely pathogenic for IRF2BPL-related condition

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_024496.4(IRF2BPL):c.1259T>C (p.Phe420Ser) rs1566785990
NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs) rs1566785444
NM_024496.4(IRF2BPL):c.514G>T (p.Glu172Ter) rs1448259271
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter) rs1555377415
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461

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.