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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 138

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.1358G>A (p.Arg453His)	rs759599321	0.00009
NM_000360.4(TH):c.1402G>A (p.Val468Met)	rs1800033	0.00006
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)	rs767635052	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.1118C>T (p.Thr373Met)	rs868563700	0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	rs121917762	0.00001
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)	rs786204540	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.203del (p.Leu68fs)	rs1554923852	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
NC_000011.10:g.2171856C>T	rs1372180906
NC_000011.9:g.(?_2186110)_(2187232_?)del
NC_000011.9:g.(?_2188266)_(2189719_?)del
NM_000360.4(TH):c.1002del (p.His335fs)	rs2133692304
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)	rs763198914
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)	rs1590166832
NM_000360.4(TH):c.1036C>T (p.Gln346Ter)	rs2495800851
NM_000360.4(TH):c.1047+1G>A
NM_000360.4(TH):c.1047+1G>T	rs1340482195
NM_000360.4(TH):c.1048-2A>G	rs2133691221
NM_000360.4(TH):c.1066dup (p.Leu356fs)	rs2495796661
NM_000360.4(TH):c.1104+1G>A	rs1057516819
NM_000360.4(TH):c.1105-1G>A	rs2133690469
NM_000360.4(TH):c.1105-1G>T	rs2133690469
NM_000360.4(TH):c.1122_1123delinsTT (p.Glu375Ter)	rs2133690417
NM_000360.4(TH):c.1125del (p.Glu375fs)	rs2133690407
NM_000360.4(TH):c.1141C>T (p.Gln381Ter)	rs121917762
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)	rs370962049
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)	rs367874223
NM_000360.4(TH):c.1266C>A (p.Tyr422Ter)	rs1554922441
NM_000360.4(TH):c.1267C>T (p.Gln423Ter)	rs2495789407
NM_000360.4(TH):c.1273C>T (p.Gln425Ter)	rs2495789345
NM_000360.4(TH):c.1282del (p.Gln428fs)	rs1554922434
NM_000360.4(TH):c.1287_1290del (p.Val430fs)	rs2495789156
NM_000360.4(TH):c.12_43del (p.Asp5fs)	rs1554924357
NM_000360.4(TH):c.12dup (p.Asp5fs)	rs1057516716
NM_000360.4(TH):c.1334+1G>A	rs781411638
NM_000360.4(TH):c.1335-1G>A	rs1554922200
NM_000360.4(TH):c.1357C>T (p.Arg453Cys)	rs755922032
NM_000360.4(TH):c.1420del (p.Ala474fs)	rs2495782383
NM_000360.4(TH):c.192del (p.Asp66fs)	rs1846202659
NM_000360.4(TH):c.196del (p.Asp66fs)
NM_000360.4(TH):c.278_296dup (p.Val100fs)	rs1554923810
NM_000360.4(TH):c.291_292del (p.Arg98fs)	rs2495828312
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)	rs2495822166
NM_000360.4(TH):c.354_370del (p.Gln119fs)	rs2495821664
NM_000360.4(TH):c.392_395dup (p.Leu134fs)	rs2495821318
NM_000360.4(TH):c.407T>A (p.Val136Glu)	rs1590169802
NM_000360.4(TH):c.446_447del (p.Arg149fs)	rs2495820510
NM_000360.4(TH):c.469delinsCTCACCCTTGG (p.Ser157fs)	rs2495820282
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>T	rs1285458218
NM_000360.4(TH):c.51del (p.Val18fs)	rs2495842783
NM_000360.4(TH):c.523A>T (p.Lys175Ter)	rs2495817747
NM_000360.4(TH):c.531_541del (p.His178fs)	rs2495817598
NM_000360.4(TH):c.548dup (p.Asp184fs)	rs2495817506
NM_000360.4(TH):c.56C>G (p.Ser19Cys)	rs766704202
NM_000360.4(TH):c.576+2T>G	rs2133696288
NM_000360.4(TH):c.577-2A>G	rs2495816041
NM_000360.4(TH):c.577-2A>T	rs2495816041
NM_000360.4(TH):c.583del (p.Ser195fs)	rs1846146030
NM_000360.4(TH):c.589C>T (p.Gln197Ter)	rs2495815951
NM_000360.4(TH):c.628G>A (p.Ala210Thr)	rs1260455415
NM_000360.4(TH):c.634C>T (p.Gln212Ter)	rs2495815488
NM_000360.4(TH):c.643C>T (p.His215Tyr)
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	rs2495811622
NM_000360.4(TH):c.696-1G>A	rs2495807056
NM_000360.4(TH):c.696-2A>G	rs1554923121
NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer)	rs2495806930
NM_000360.4(TH):c.711del (p.Thr238fs)	rs2495806867
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)	rs2495806226
NM_000360.4(TH):c.779del (p.Arg260fs)	rs2495805751
NM_000360.4(TH):c.789_795dup (p.Glu266fs)	rs2495805517
NM_000360.4(TH):c.792C>G (p.Tyr264Ter)	rs200730608
NM_000360.4(TH):c.811C>T (p.Gln271Ter)	rs2495805308
NM_000360.4(TH):c.815T>G (p.Leu272Arg)	rs775410637
NM_000360.4(TH):c.820_823del (p.Asp274fs)	rs1476695915
NM_000360.4(TH):c.826T>G (p.Ser276Ala)
NM_000360.4(TH):c.827C>A (p.Ser276Tyr)	rs2495805112
NM_000360.4(TH):c.833T>C (p.Phe278Ser)
NM_000360.4(TH):c.835dup (p.Leu279fs)	rs2495805014
NM_000360.4(TH):c.839_840insCC (p.Lys280fs)	rs2495804984
NM_000360.4(TH):c.841+1G>A	rs2133693369
NM_000360.4(TH):c.841+1G>T	rs2133693369
NM_000360.4(TH):c.845dup (p.Thr283fs)	rs1554923004
NM_000360.4(TH):c.863G>C (p.Arg288Pro)
NM_000360.4(TH):c.889C>T (p.Arg297Trp)	rs1428589694
NM_000360.4(TH):c.90+10C>T	rs1554924321
NM_000360.4(TH):c.90+13G>T	rs77140743
NM_000360.4(TH):c.90+14T>A	rs2495842209
NM_000360.4(TH):c.90+7dup	rs780485650
NM_000360.4(TH):c.91-1G>C	rs2495830952
NM_000360.4(TH):c.91-860G>T	rs2495836407
NM_000360.4(TH):c.91-9_107del	rs1057516874
NM_000360.4(TH):c.916C>T (p.Arg306Cys)
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)	rs1337159250
NM_000360.4(TH):c.956C>A (p.Ser319Ter)	rs2495802684
NM_000360.4(TH):c.977+1G>A	rs1057516736
NM_000360.4(TH):c.977+1del	rs2495802432
NM_000360.4(TH):c.978-1G>A	rs2495801545
NM_000360.4(TH):c.978-1_1019del	rs1169314384
NM_000360.4(TH):c.978-2A>G	rs2495801552
NM_000360.4(TH):c.983G>T (p.Cys328Phe)	rs121917765
NM_000360.4(TH):c.997del (p.Leu333fs)	rs1057517162

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