ClinVar Miner

List of variants reported as likely pathogenic for TH-deficient dopa-responsive dystonia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.1358G>A (p.Arg453His) rs759599321 0.00009
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000360.4(TH):c.1047+1G>C rs1340482195 0.00002
NM_000360.4(TH):c.1061C>T (p.Ala354Val) rs763039181 0.00002
NM_000360.4(TH):c.1189G>A (p.Gly397Arg) rs1264884607 0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299 0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220 0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000360.4(TH):c.644+1G>A rs1266265578 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_199292.3(TH):c.-71C>T rs549435434 0.00002
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762 0.00001
NM_000360.4(TH):c.1300T>C (p.Ser434Pro) rs1367289835 0.00001
NM_000360.4(TH):c.1399G>T (p.Asp467Tyr) rs200751977 0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser) rs1288483479 0.00001
NC_000011.10:g.(?_2166470)_(2168675_?)del
NM_000360.4(TH):c.1002del (p.His335fs) rs2133692304
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1035_1045del (p.Gln346fs) rs1590166832
NM_000360.4(TH):c.1036C>T (p.Gln346Ter)
NM_000360.4(TH):c.1047+1G>T
NM_000360.4(TH):c.1048-2A>G rs2133691221
NM_000360.4(TH):c.1066dup (p.Leu356fs)
NM_000360.4(TH):c.1104+1G>A rs1057516819
NM_000360.4(TH):c.1105-1G>A
NM_000360.4(TH):c.1105-1G>T rs2133690469
NM_000360.4(TH):c.1118C>T (p.Thr373Met) rs868563700
NM_000360.4(TH):c.1125del (p.Glu375fs) rs2133690407
NM_000360.4(TH):c.1141C>T (p.Gln381Ter)
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1176_1180del (p.Ser394fs) rs1554922593
NM_000360.4(TH):c.1200+2T>C rs2133690169
NM_000360.4(TH):c.1201-1G>A rs2133689319
NM_000360.4(TH):c.1201-2_1201-1delinsCC rs2133689324
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1229G>C (p.Arg410Pro)
NM_000360.4(TH):c.1266C>A (p.Tyr422Ter) rs1554922441
NM_000360.4(TH):c.1267C>T (p.Gln423Ter)
NM_000360.4(TH):c.1273C>T (p.Gln425Ter)
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540
NM_000360.4(TH):c.1282del (p.Gln428fs) rs1554922434
NM_000360.4(TH):c.1287_1290del (p.Val430fs)
NM_000360.4(TH):c.12_43del (p.Asp5fs) rs1554924357
NM_000360.4(TH):c.12dup (p.Asp5fs) rs1057516716
NM_000360.4(TH):c.1357C>T (p.Arg453Cys) rs755922032
NM_000360.4(TH):c.1420del (p.Ala474fs)
NM_000360.4(TH):c.192del (p.Asp66fs)
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.278_296dup (p.Val100fs) rs1554923810
NM_000360.4(TH):c.291_292del (p.Arg98fs)
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly) rs1590170978
NM_000360.4(TH):c.312+1G>A rs1554923802
NM_000360.4(TH):c.328del (p.Ile110fs)
NM_000360.4(TH):c.354_370del (p.Gln119fs)
NM_000360.4(TH):c.392_395dup (p.Leu134fs)
NM_000360.4(TH):c.407T>A (p.Val136Glu) rs1590169802
NM_000360.4(TH):c.469delinsCTCACCCTTGG (p.Ser157fs)
NM_000360.4(TH):c.487+1G>A rs1554923513
NM_000360.4(TH):c.487+1G>C rs1554923513
NM_000360.4(TH):c.487+2T>C rs1057517003
NM_000360.4(TH):c.488-1G>A rs1285458218
NM_000360.4(TH):c.488-1G>T rs1285458218
NM_000360.4(TH):c.51del (p.Val18fs)
NM_000360.4(TH):c.523A>T (p.Lys175Ter)
NM_000360.4(TH):c.531_541del (p.His178fs)
NM_000360.4(TH):c.548dup (p.Asp184fs)
NM_000360.4(TH):c.56C>G (p.Ser19Cys)
NM_000360.4(TH):c.576+2T>G rs2133696288
NM_000360.4(TH):c.577-2A>G
NM_000360.4(TH):c.577-2A>T
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.634C>T (p.Gln212Ter)
NM_000360.4(TH):c.644+2T>A rs1554923317
NM_000360.4(TH):c.644_644+15del rs1554923305
NM_000360.4(TH):c.645-2A>G rs1590168368
NM_000360.4(TH):c.695+1G>C
NM_000360.4(TH):c.696-1G>A
NM_000360.4(TH):c.696-2A>G rs1554923121
NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer)
NM_000360.4(TH):c.714_715del (p.Leu239fs) rs1564918287
NM_000360.4(TH):c.717del (p.Lys240fs) rs1057516712
NM_000360.4(TH):c.748del (p.Glu250fs)
NM_000360.4(TH):c.779del (p.Arg260fs)
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.792C>G (p.Tyr264Ter)
NM_000360.4(TH):c.811C>T (p.Gln271Ter)
NM_000360.4(TH):c.815T>G (p.Leu272Arg) rs775410637
NM_000360.4(TH):c.820_823del (p.Asp274fs)
NM_000360.4(TH):c.827C>A (p.Ser276Tyr)
NM_000360.4(TH):c.835dup (p.Leu279fs)
NM_000360.4(TH):c.839_840insCC (p.Lys280fs)
NM_000360.4(TH):c.841+1G>A
NM_000360.4(TH):c.841+1G>T rs2133693369
NM_000360.4(TH):c.845dup (p.Thr283fs) rs1554923004
NM_000360.4(TH):c.889C>T (p.Arg297Trp)
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+14T>A
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.91-860G>T
NM_000360.4(TH):c.91-9_107del rs1057516874
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.921del (p.Phe308fs) rs1057516491
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
NM_000360.4(TH):c.977+1G>A rs1057516736
NM_000360.4(TH):c.977+1del
NM_000360.4(TH):c.978-1G>A
NM_000360.4(TH):c.978-1_1019del
NM_000360.4(TH):c.978-2A>G
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765
NM_000360.4(TH):c.997del (p.Leu333fs) rs1057517162
NM_199292.2(TH):c.-70G>A rs1372180906

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.