ClinVar Miner

List of variants reported as likely benign for torsion dystonia 6

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018105.3(THAP1):c.71+9C>A rs200209986 0.00121
NM_018105.3(THAP1):c.421G>A (p.Asp141Asn) rs138345513 0.00045
NM_018105.3(THAP1):c.-40T>C rs368815106 0.00026
NM_018105.3(THAP1):c.57C>T (p.Pro19=) rs146087734 0.00015
NM_018105.3(THAP1):c.489C>G (p.Leu163=) rs150542583 0.00010
NM_018105.3(THAP1):c.558C>T (p.Phe186=) rs771720832 0.00010
NM_018105.3(THAP1):c.601C>T (p.Leu201=) rs202165165 0.00008
NM_018105.3(THAP1):c.363G>A (p.Pro121=) rs202128051 0.00007
NM_018105.3(THAP1):c.495C>T (p.Thr165=) rs140668058 0.00004
NM_018105.3(THAP1):c.213A>G (p.Leu71=) rs778653023 0.00002
NM_018105.3(THAP1):c.267+6A>G rs373843959 0.00002
NM_018105.3(THAP1):c.39C>T (p.Arg13=) rs369406881 0.00002
NM_018105.3(THAP1):c.36C>T (p.Asn12=) rs1327871725 0.00001
NM_018105.3(THAP1):c.105A>G (p.Glu35=)
NM_018105.3(THAP1):c.135T>C (p.Phe45=)
NM_018105.3(THAP1):c.318G>A (p.Pro106=)
NM_018105.3(THAP1):c.355C>T (p.Leu119=)
NM_018105.3(THAP1):c.426A>C (p.Thr142=)
NM_018105.3(THAP1):c.432C>T (p.His144=)
NM_018105.3(THAP1):c.525G>C (p.Arg175=)
NM_018105.3(THAP1):c.576C>T (p.Asp192=)
NM_018105.3(THAP1):c.594T>C (p.Tyr198=)
NM_018105.3(THAP1):c.60T>C (p.Val20=)
NM_018105.3(THAP1):c.66C>T (p.Phe22=)
NM_018105.3(THAP1):c.71+16G>A
NM_018105.3(THAP1):c.71+20C>T
NM_018105.3(THAP1):c.71+8C>T

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.