ClinVar Miner

List of variants studied for TH-deficient dopa-responsive dystonia

Included ClinVar conditions (2):
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Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP
GCH1, 1-BP DEL, 351A
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.3(GCH1):c.595C>G (p.Pro199Ala) rs137852633
NM_000161.3(GCH1):c.662T>C (p.Met221Thr) rs104894434
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.3(GCH1):c.747G>C (p.Arg249Ser) rs104894442
NM_000207.3(INS):c.*22A>C rs3842753
NM_000207.3(INS):c.*9C>T rs3842752
NM_000207.3(INS):c.-17-6T>A rs689
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740
NM_000207.3(INS):c.-9C>T rs5505
NM_000207.3(INS):c.187+11T>C rs5506
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744
NM_000360.3(TH):c.-71C>T rs549435434
NM_000360.4(TH):c.*109G>A rs886048113
NM_000360.4(TH):c.*277G>A rs3842725
NM_000360.4(TH):c.*52C>T rs570989291
NM_000360.4(TH):c.-18G>A rs370306636
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
NM_000360.4(TH):c.1069G>A (p.Gly357Arg) rs886048114
NM_000360.4(TH):c.1104+1G>A rs1057516819
NM_000360.4(TH):c.1105-24T>A rs587776767
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1129G>A (p.Gly377Arg) rs745551241
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762
NM_000360.4(TH):c.115C>G (p.Gln39Glu) rs886048115
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1176_1180del (p.Ser394fs) rs1554922593
NM_000360.4(TH):c.1200+5G>C rs774895306
NM_000360.4(TH):c.1200+9C>T rs11564717
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392
NM_000360.4(TH):c.1266C>A (p.Tyr422Ter) rs1554922441
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540
NM_000360.4(TH):c.1282del (p.Gln428fs) rs1554922434
NM_000360.4(TH):c.12_43del (p.Asp5fs) rs1554924357
NM_000360.4(TH):c.12dup (p.Asp5fs) rs1057516716
NM_000360.4(TH):c.1301C>G (p.Ser434Cys) rs767211543
NM_000360.4(TH):c.1335-1G>A rs1554922200
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536
NM_000360.4(TH):c.1382C>G (p.Pro461Arg) rs767635052
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471
NM_000360.4(TH):c.278_296dup (p.Val100fs) rs1554923810
NM_000360.4(TH):c.283del (p.Ala95fs) rs797045111
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220
NM_000360.4(TH):c.293_295dup (p.Ala99_Val100insGly)
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766
NM_000360.4(TH):c.312+1G>A rs1554923802
NM_000360.4(TH):c.313-9C>T rs538345855
NM_000360.4(TH):c.360G>A (p.Arg120=) rs761868828
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543
NM_000360.4(TH):c.407T>A (p.Val136Glu)
NM_000360.4(TH):c.44G>A (p.Arg15His) rs199648386
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564
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.585G>A (p.Ser195=) rs376615793
NM_000360.4(TH):c.599G>C (p.Arg200Pro) rs201224335
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171
NM_000360.4(TH):c.601C>T (p.Gln201Ter) rs1057517423
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763
NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del) rs1554923325
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.644+1G>A rs1266265578
NM_000360.4(TH):c.644+2T>A rs1554923317
NM_000360.4(TH):c.644_644+15del rs1554923305
NM_000360.4(TH):c.676G>A (p.Ala226Thr) rs549188961
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716
NM_000360.4(TH):c.696-2A>G rs1554923121
NM_000360.4(TH):c.714_715del (p.Leu239fs) rs1564918287
NM_000360.4(TH):c.717del (p.Lys240fs) rs1057516712
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357
NM_000360.4(TH):c.733A>C (p.Thr245Pro) rs28934581
NM_000360.4(TH):c.749A>T (p.Glu250Val) rs878855309
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257
NM_000360.4(TH):c.815T>G (p.Leu272Arg)
NM_000360.4(TH):c.841+12C>T rs368489295
NM_000360.4(TH):c.845dup (p.Thr283fs) rs1554923004
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764
NM_000360.4(TH):c.850G>A (p.Gly284Ser) rs1288483479
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+13G>A rs77140743
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+1G>T rs1554924329
NM_000360.4(TH):c.90+26G>A rs191356744
NM_000360.4(TH):c.90+2_90+3dup rs1554924328
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.91-818G>A rs753403788
NM_000360.4(TH):c.91-838C>T rs1195830888
NM_000360.4(TH):c.91-871C>T rs1313952475
NM_000360.4(TH):c.91-892C>T rs775961364
NM_000360.4(TH):c.91-896_91-885del rs1554924102
NM_000360.4(TH):c.91-900G>A rs1554924111
NM_000360.4(TH):c.91-901A>C rs1554924114
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.977+1G>A rs1057516736
NM_000360.4(TH):c.977+8C>G rs12419447
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765
NM_000360.4(TH):c.997del (p.Leu333fs) rs1057517162
NM_199292.2(TH):c.-69T>A rs1554924394
TH, -70G-A
TH, 1-BP DEL, 291C

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