ClinVar Miner

List of variants reported as likely benign for TH-deficient dopa-responsive dystonia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000207.3(INS):c.-9C>T rs5505
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471

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.