ClinVar Miner

List of variants in gene TTPA reported as benign for cerebellar disorder

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_000370.3(TTPA):c.*1093G>A rs4587328 0.59276
NM_000370.3(TTPA):c.*1487G>A rs6472068 0.51778
NM_000370.3(TTPA):c.*1404G>A rs56675911 0.01322
NM_000370.3(TTPA):c.*782C>T rs114278576 0.00716
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311 0.00172
NM_000370.3(TTPA):c.471C>A (p.Ile157=) rs572263038 0.00001
NM_000370.3(TTPA):c.*576_*578del rs10543235
NM_000370.3(TTPA):c.359-3del rs398123340

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.