ClinVar Miner

List of variants in gene STEEP1 reported as pathogenic for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022101.4(STEEP1):c.159_160insTA (p.Asp54Ter) rs1556220029
NM_022101.4(STEEP1):c.492AGAGGA[1] (p.Glu167_Glu168del) rs2053171807
NM_022101.4(STEEP1):c.598C>T (p.Gln200Ter) rs1188300105

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.