ClinVar Miner

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

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 121
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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.-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_001042376.3(INS-IGF2):c.187+942C>T rs3842752
NM_001042376.3(INS-IGF2):c.187+955A>C rs3842753
NM_199292.2(TH):c.-69T>A rs1554924394
NM_199292.3(TH):c.*109G>A rs886048113
NM_199292.3(TH):c.*277G>A rs3842725
NM_199292.3(TH):c.*52C>T rs570989291
NM_199292.3(TH):c.-18G>A rs370306636
NM_199292.3(TH):c.100C>T (p.Gln34Ter) rs1554924321
NM_199292.3(TH):c.1010G>A (p.Arg337His) rs28934580
NM_199292.3(TH):c.1014del (p.Phe339fs) rs1057516491
NM_199292.3(TH):c.102+14G>A rs191356744
NM_199292.3(TH):c.102+1G>A rs77140743
NM_199292.3(TH):c.102+1G>T rs77140743
NM_199292.3(TH):c.103-1G>A rs1554924111
NM_199292.3(TH):c.103-2A>C rs1554924114
NM_199292.3(TH):c.106_117del (p.Ala36_Pro39del) rs1554924102
NM_199292.3(TH):c.1070+1G>A rs1057516736
NM_199292.3(TH):c.1070+8C>G rs12419447
NM_199292.3(TH):c.1076G>T (p.Cys359Phe) rs121917765
NM_199292.3(TH):c.1090del (p.Leu364fs) rs1057517162
NM_199292.3(TH):c.110C>T (p.Pro37Leu) rs775961364
NM_199292.3(TH):c.1128G>T (p.Ala376=) rs11826260
NM_199292.3(TH):c.1145T>C (p.Ile382Thr) rs1554922725
NM_199292.3(TH):c.1162G>A (p.Gly388Arg) rs886048114
NM_199292.3(TH):c.1197+1G>A rs1057516819
NM_199292.3(TH):c.1198-24T>A rs587776767
NM_199292.3(TH):c.1198-5C>G rs535794692
NM_199292.3(TH):c.1222G>A (p.Gly408Arg) rs745551241
NM_199292.3(TH):c.1234C>A (p.Gln412Lys) rs121917762
NM_199292.3(TH):c.1263C>G (p.Ala421=) rs199839852
NM_199292.3(TH):c.1269_1273del (p.Ser425fs) rs1554922593
NM_199292.3(TH):c.1293+5G>C rs774895306
NM_199292.3(TH):c.1293+9C>T rs11564717
NM_199292.3(TH):c.12_43del (p.Asp5fs) rs1554924357
NM_199292.3(TH):c.12dup (p.Asp5fs) rs1057516716
NM_199292.3(TH):c.131C>T (p.Ser44Phe) rs1313952475
NM_199292.3(TH):c.1348G>A (p.Val450Met) rs184106392
NM_199292.3(TH):c.1359C>A (p.Tyr453Ter) rs1554922441
NM_199292.3(TH):c.1371G>A (p.Thr457=) rs36097848
NM_199292.3(TH):c.1375C>T (p.Gln459Ter) rs786204540
NM_199292.3(TH):c.1375del (p.Gln459fs) rs1554922434
NM_199292.3(TH):c.1394C>G (p.Ser465Cys) rs767211543
NM_199292.3(TH):c.1428-1G>A rs1554922200
NM_199292.3(TH):c.1461C>T (p.Ser487=) rs45538536
NM_199292.3(TH):c.1475C>G (p.Pro492Arg) rs767635052
NM_199292.3(TH):c.1481C>T (p.Thr494Met) rs45471299
NM_199292.3(TH):c.1493A>G (p.Asp498Gly) rs771351747
NM_199292.3(TH):c.1494C>T (p.Asp498=) rs3842724
NM_199292.3(TH):c.1563C>G (p.Ala521=) rs777477661
NM_199292.3(TH):c.164C>T (p.Ser55Phe) rs1195830888
NM_199292.3(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_199292.3(TH):c.183+1G>A rs753403788
NM_199292.3(TH):c.184-9_200del rs1057516874
NM_199292.3(TH):c.208C>G (p.Gln70Glu) rs886048115
NM_199292.3(TH):c.279G>A (p.Ser93=) rs34510659
NM_199292.3(TH):c.296del (p.Leu99fs) rs1554923852
NM_199292.3(TH):c.2T>C (p.Met1Thr) rs201932766
NM_199292.3(TH):c.303T>C (p.Ala101=) rs7950050
NM_199292.3(TH):c.334G>A (p.Val112Met) rs6356
NM_199292.3(TH):c.345G>A (p.Leu115=) rs758016812
NM_199292.3(TH):c.356C>T (p.Pro119Leu) rs150260759
NM_199292.3(TH):c.360G>A (p.Arg120=) rs76240471
NM_199292.3(TH):c.371_389dup (p.Val131fs) rs1554923810
NM_199292.3(TH):c.376del (p.Ala126fs) rs797045111
NM_199292.3(TH):c.385C>T (p.Arg129Ter) rs1057519220
NM_199292.3(TH):c.405+1G>A rs1554923802
NM_199292.3(TH):c.406-9C>T rs538345855
NM_199292.3(TH):c.44G>A (p.Arg15His) rs199648386
NM_199292.3(TH):c.453G>A (p.Arg151=) rs761868828
NM_199292.3(TH):c.456G>A (p.Pro152=) rs370429316
NM_199292.3(TH):c.457C>T (p.Arg153Ter) rs771610752
NM_199292.3(TH):c.491G>A (p.Arg164His) rs376881948
NM_199292.3(TH):c.499G>A (p.Val167Met) rs142046543
NM_199292.3(TH):c.545T>C (p.Val182Ala) rs147569564
NM_199292.3(TH):c.580+1G>A rs1554923513
NM_199292.3(TH):c.580+1G>C rs1554923513
NM_199292.3(TH):c.580+2T>C rs1057517003
NM_199292.3(TH):c.5C>T (p.Pro2Leu) rs139474171
NM_199292.3(TH):c.678G>A (p.Ser226=)
NM_199292.3(TH):c.692G>C (p.Arg231Pro) rs201224335
NM_199292.3(TH):c.694C>T (p.Gln232Ter) rs1057517423
NM_199292.3(TH):c.698G>A (p.Arg233His) rs80338892
NM_199292.3(TH):c.707T>C (p.Leu236Pro) rs121917763
NM_199292.3(TH):c.718_729del (p.Ile240_Gln243del) rs1554923325
NM_199292.3(TH):c.720C>G (p.Ile240Met) rs202149985
NM_199292.3(TH):c.721G>A (p.Ala241Thr) rs1260455415
NM_199292.3(TH):c.737+1G>A rs1266265578
NM_199292.3(TH):c.737+2T>A rs1554923317
NM_199292.3(TH):c.737_737+15del rs1554923305
NM_199292.3(TH):c.769G>A (p.Ala257Thr) rs549188961
NM_199292.3(TH):c.772G>A (p.Glu258Lys) rs536382000
NM_199292.3(TH):c.777G>A (p.Glu259=) rs11564716
NM_199292.3(TH):c.789-2A>G rs1554923121
NM_199292.3(TH):c.807_808del (p.Leu270fs) rs1564918287
NM_199292.3(TH):c.810del (p.Lys271fs) rs1057516712
NM_199292.3(TH):c.813G>A (p.Lys271=) rs6357
NM_199292.3(TH):c.826A>C (p.Thr276Pro) rs28934581
NM_199292.3(TH):c.842A>T (p.Glu281Val) rs878855309
NM_199292.3(TH):c.880G>C (p.Gly294Arg) rs755536257
NM_199292.3(TH):c.91G>T (p.Val31Leu) rs1554924329
NM_199292.3(TH):c.92_93dup (p.Arg32Ter) rs1554924328
NM_199292.3(TH):c.934+12C>T rs368489295
NM_199292.3(TH):c.938dup (p.Thr314fs) rs1554923004
NM_199292.3(TH):c.941C>T (p.Thr314Met) rs121917764
NM_199292.3(TH):c.943G>A (p.Gly315Ser) rs1288483479
NM_199292.3(TH):c.990C>T (p.Phe330=) rs76719766
NM_199292.3(TH):c.99dup (p.Gln34fs) rs780485650
TH, -70G-A
TH, 1-BP DEL, 291C

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