ClinVar Miner

List of variants reported as uncertain significance for torsion dystonia 6 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018105.3(THAP1):c.*141A>G rs745429614 0.00071
NM_018105.3(THAP1):c.*999G>A rs558640226 0.00021
NM_018105.3(THAP1):c.*1032G>A rs886062944 0.00014
NM_018105.3(THAP1):c.*1138T>A rs888502636 0.00006
NM_018105.3(THAP1):c.*156A>G rs1188841315 0.00006
NM_018105.3(THAP1):c.*795A>G rs755924475 0.00006
NM_018105.3(THAP1):c.238A>G (p.Ile80Val) rs372080941 0.00003
NM_018105.3(THAP1):c.-111T>C rs774107588 0.00002
NM_018105.3(THAP1):c.*137C>A rs928631504 0.00001
NM_018105.3(THAP1):c.-15C>T rs771561925 0.00001
NM_018105.3(THAP1):c.*1235C>A rs528126268
NM_018105.3(THAP1):c.*139A>G rs1802642842
NM_018105.3(THAP1):c.*245T>C rs886062947
NM_018105.3(THAP1):c.*459A>C rs886062945
NM_018105.3(THAP1):c.*598A>G rs1396001366
NM_018105.3(THAP1):c.*777A>G rs1802628977
NM_018105.3(THAP1):c.*835A>G rs1480200060
NM_018105.3(THAP1):c.*877A>G rs1802627052
NM_018105.3(THAP1):c.-101C>G rs886062949
NM_018105.3(THAP1):c.-118G>A rs1434339831

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.