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

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		ClinVar version:

Total variants: 87

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HGVS	dbSNP	gnomAD frequency
NM_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
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.1400A>G (p.Asp467Gly)	rs771351747	0.00003
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_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.1282C>T (p.Gln428Ter)	rs786204540	0.00001
NM_000360.4(TH):c.203del (p.Leu68fs)	rs1554923852	0.00001
NM_000360.4(TH):c.412C>T (p.Arg138Ter)	rs775175165	0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.641G>T (p.Arg214Met)	rs562363231	0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser)	rs762304556	0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro)	rs28934581	0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met)	rs121917764	0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser)	rs1288483479	0.00001
NC_000011.10:g.2171856C>T	rs1372180906
NC_000011.9:g.(?_2181023)_(2193087_?)del
NC_000011.9:g.(?_2185463)_(2187013_?)del
NC_000011.9:g.(?_2186878)_(2193016_?)del
NC_000011.9:g.(?_2187222)_(2188272_?)del
NC_000011.9:g.(?_2187460)_(2191953_?)del
NC_000011.9:g.(?_2191910)_(2193087_?)del
NM_000360.4(TH):c.1010C>T (p.Pro337Leu)	rs2133692289
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)	rs1590166832
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)	rs1554922725
NM_000360.4(TH):c.1105-24T>A	rs587776767
NM_000360.4(TH):c.1122_1123delinsTT (p.Glu375Ter)	rs2133690417
NM_000360.4(TH):c.1125del (p.Glu375fs)	rs2133690407
NM_000360.4(TH):c.1138A>T (p.Lys380Ter)	rs2133690361
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.1189G>C (p.Gly397Arg)	rs1264884607
NM_000360.4(TH):c.1210_1213del (p.Ser404fs)	rs2133689285
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)	rs575326605
NM_000360.4(TH):c.1252dup (p.Ala418fs)	rs2495789618
NM_000360.4(TH):c.12dup (p.Asp5fs)	rs1057516716
NM_000360.4(TH):c.1341T>A (p.Tyr447Ter)	rs1442860813
NM_000360.4(TH):c.1354C>T (p.Gln452Ter)	rs2133686936
NM_000360.4(TH):c.138dup (p.Lys47fs)	rs2495830511
NM_000360.4(TH):c.202del (p.Leu68fs)	rs2495829839
NM_000360.4(TH):c.242del (p.Val81fs)
NM_000360.4(TH):c.263del (p.Pro88fs)	rs2495829167
NM_000360.4(TH):c.281C>A (p.Ser94Ter)	rs760640869
NM_000360.4(TH):c.283del (p.Ala95fs)	rs797045111
NM_000360.4(TH):c.374_387dup (p.Tyr130fs)	rs2133697599
NM_000360.4(TH):c.488-1G>A	rs1285458218
NM_000360.4(TH):c.494G>A (p.Trp165Ter)	rs2495817973
NM_000360.4(TH):c.507del (p.Val170fs)	rs2495817866
NM_000360.4(TH):c.51del (p.Val18fs)	rs2495842783
NM_000360.4(TH):c.545_546del (p.Lys182fs)	rs2495817531
NM_000360.4(TH):c.583del (p.Ser195fs)	rs1846146030
NM_000360.4(TH):c.584C>A (p.Ser195Ter)	rs372409517
NM_000360.4(TH):c.592del (p.Val198fs)	rs2495815921
NM_000360.4(TH):c.601C>T (p.Gln201Ter)	rs1057517423
NM_000360.4(TH):c.628G>A (p.Ala210Thr)	rs1260455415
NM_000360.4(TH):c.672C>G (p.Tyr224Ter)	rs1554923218
NM_000360.4(TH):c.711del (p.Thr238fs)	rs2495806867
NM_000360.4(TH):c.714_715del (p.Leu239fs)	rs1564918287
NM_000360.4(TH):c.724C>T (p.Leu242Phe)	rs1457094087
NM_000360.4(TH):c.739_743dup (p.Cys248fs)	rs2495806338
NM_000360.4(TH):c.778del (p.Arg260fs)	rs2495805791
NM_000360.4(TH):c.779del (p.Arg260fs)	rs2495805751
NM_000360.4(TH):c.788del (p.Gly263fs)	rs2133693561
NM_000360.4(TH):c.789_795dup (p.Glu266fs)	rs2495805517
NM_000360.4(TH):c.78del (p.Glu27fs)	rs1846263622
NM_000360.4(TH):c.796G>T (p.Glu266Ter)	rs1846110840
NM_000360.4(TH):c.837del (p.Lys280fs)	rs2495805003
NM_000360.4(TH):c.898del (p.Leu300fs)	rs2495803371
NM_000360.4(TH):c.90+10C>T	rs1554924321
NM_000360.4(TH):c.90+7dup	rs780485650
NM_000360.4(TH):c.91-833dup	rs2495836165
NM_000360.4(TH):c.91-835AC[3]	rs2495836141
NM_000360.4(TH):c.91-883dup	rs2495836626
NM_000360.4(TH):c.916del (p.Arg306fs)	rs2495803181
NM_000360.4(TH):c.917G>A (p.Arg306His)	rs28934580
NM_000360.4(TH):c.91_113del
NM_000360.4(TH):c.925C>T (p.Gln309Ter)	rs2495803078
NM_000360.4(TH):c.934C>T (p.Gln312Ter)	rs1337159250
NM_000360.4(TH):c.982_991del (p.Cys328fs)	rs2495801396
NM_000360.4(TH):c.983G>T (p.Cys328Phe)	rs121917765
NM_000360.4(TH):c.990del (p.His330fs)	rs1846095407
NM_000360.4(TH):c.991G>T (p.Glu331Ter)	rs1260079066

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