ClinVar Miner

List of variants in gene SPAST reported as likely pathogenic by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_014946.3(SPAST):c.1209del (p.Phe404fs) rs1057520127
NM_014946.3(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.3(SPAST):c.363del (p.Lys121fs) rs1553394622
NM_014946.3(SPAST):c.962_974del (p.Asp321fs) rs1553315223

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.