ClinVar Miner

List of variants in gene TH reported as pathogenic for Autosomal recessive DOPA responsive dystonia

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Total variants: 82
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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.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 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.614T>C (p.Leu205Pro) rs121917763 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_000011.9: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)
NM_000360.4(TH):c.1176_1180del (p.Ser394fs) rs1554922593
NM_000360.4(TH):c.1189G>C (p.Gly397Arg)
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)
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540
NM_000360.4(TH):c.12dup (p.Asp5fs) rs1057516716
NM_000360.4(TH):c.1341T>A (p.Tyr447Ter)
NM_000360.4(TH):c.1354C>T (p.Gln452Ter) rs2133686936
NM_000360.4(TH):c.138dup (p.Lys47fs)
NM_000360.4(TH):c.202del (p.Leu68fs)
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.263del (p.Pro88fs)
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.412C>T (p.Arg138Ter)
NM_000360.4(TH):c.494G>A (p.Trp165Ter)
NM_000360.4(TH):c.507del (p.Val170fs)
NM_000360.4(TH):c.51del (p.Val18fs)
NM_000360.4(TH):c.545_546del (p.Lys182fs)
NM_000360.4(TH):c.583del (p.Ser195fs)
NM_000360.4(TH):c.584C>A (p.Ser195Ter) rs372409517
NM_000360.4(TH):c.592del (p.Val198fs)
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.641G>T (p.Arg214Met)
NM_000360.4(TH):c.672C>G (p.Tyr224Ter) rs1554923218
NM_000360.4(TH):c.711del (p.Thr238fs)
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)
NM_000360.4(TH):c.778del (p.Arg260fs)
NM_000360.4(TH):c.788del (p.Gly263fs) rs2133693561
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.78del (p.Glu27fs) rs1846263622
NM_000360.4(TH):c.796G>T (p.Glu266Ter)
NM_000360.4(TH):c.837del (p.Lys280fs)
NM_000360.4(TH):c.898del (p.Leu300fs)
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.91-833dup
NM_000360.4(TH):c.91-835AC[3]
NM_000360.4(TH):c.91-883dup
NM_000360.4(TH):c.916del (p.Arg306fs)
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.925C>T (p.Gln309Ter)
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
NM_000360.4(TH):c.982_991del (p.Cys328fs)
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
NM_199292.2(TH):c.-70G>A rs1372180906

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