ClinVar Miner

List of variants in gene THAP1 studied for torsion dystonia 6

Included ClinVar conditions (1):
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Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_018105.3(THAP1):c.*803G>A rs59531993 0.08153
NM_018105.3(THAP1):c.*686A>G rs11557527 0.03452
NM_018105.3(THAP1):c.*455A>G rs73675436 0.03227
NM_018105.3(THAP1):c.*434A>G rs73675437 0.03226
NM_018105.3(THAP1):c.*297A>G rs73634656 0.01553
NM_018105.3(THAP1):c.*135T>A rs181850921 0.01519
NM_018105.2(THAP1):c.-237G>T rs370983900 0.01419
NM_018105.3(THAP1):c.*1157A>G rs142802423 0.00549
NM_018105.3(THAP1):c.*745G>T rs114447974 0.00310
NM_018105.3(THAP1):c.*127A>T rs369328057 0.00136
NM_018105.3(THAP1):c.*190C>A rs141658821 0.00132
NM_018105.3(THAP1):c.71+9C>A rs200209986 0.00121
NM_018105.3(THAP1):c.*1250G>A rs543106396 0.00103
NM_018105.3(THAP1):c.*141A>G rs745429614 0.00071
NM_018105.3(THAP1):c.421G>A (p.Asp141Asn) rs138345513 0.00045
NM_018105.3(THAP1):c.-40T>C rs368815106 0.00026
NM_018105.3(THAP1):c.-48C>T rs377034494 0.00024
NM_018105.3(THAP1):c.*126T>A rs528807483 0.00021
NM_018105.3(THAP1):c.*999G>A rs558640226 0.00021
NM_018105.3(THAP1):c.577G>A (p.Val193Ile) rs756694303 0.00015
NM_018105.3(THAP1):c.57C>T (p.Pro19=) rs146087734 0.00015
NM_018105.3(THAP1):c.*1032G>A rs886062944 0.00014
NM_018105.3(THAP1):c.489C>G (p.Leu163=) rs150542583 0.00010
NM_018105.3(THAP1):c.558C>T (p.Phe186=) rs771720832 0.00010
NM_018105.3(THAP1):c.*65G>C rs185264166 0.00008
NM_018105.3(THAP1):c.590G>A (p.Gly197Asp) rs140694378 0.00008
NM_018105.3(THAP1):c.601C>T (p.Leu201=) rs202165165 0.00008
NM_018105.3(THAP1):c.363G>A (p.Pro121=) rs202128051 0.00007
NM_018105.3(THAP1):c.*1138T>A rs888502636 0.00006
NM_018105.3(THAP1):c.*156A>G rs1188841315 0.00006
NM_018105.3(THAP1):c.*795A>G rs755924475 0.00006
NM_018105.3(THAP1):c.268-159A>G rs1375424771 0.00006
NM_018105.3(THAP1):c.427A>G (p.Met143Val) rs374512193 0.00006
NM_018105.3(THAP1):c.47A>G (p.Lys16Arg) rs751550215 0.00006
NM_018105.3(THAP1):c.537A>G (p.Lys179=) rs769746038 0.00005
NM_018105.3(THAP1):c.495C>T (p.Thr165=) rs140668058 0.00004
NM_018105.3(THAP1):c.574G>A (p.Asp192Asn) rs377725442 0.00004
NM_018105.3(THAP1):c.238A>G (p.Ile80Val) rs372080941 0.00003
NM_018105.3(THAP1):c.-111T>C rs774107588 0.00002
NM_018105.3(THAP1):c.213A>G (p.Leu71=) rs778653023 0.00002
NM_018105.3(THAP1):c.267+6A>G rs373843959 0.00002
NM_018105.3(THAP1):c.39C>T (p.Arg13=) rs369406881 0.00002
NM_018105.3(THAP1):c.*137C>A rs928631504 0.00001
NM_018105.3(THAP1):c.-15C>T rs771561925 0.00001
NM_018105.3(THAP1):c.-34G>A rs573112315 0.00001
NM_018105.3(THAP1):c.266A>G (p.Lys89Arg) rs267607111 0.00001
NM_018105.3(THAP1):c.268-4T>A rs755416189 0.00001
NM_018105.3(THAP1):c.343G>C (p.Ala115Pro) rs761376417 0.00001
NM_018105.3(THAP1):c.346A>C (p.Ile116Leu) rs776431729 0.00001
NM_018105.3(THAP1):c.36C>T (p.Asn12=) rs1327871725 0.00001
NM_018105.3(THAP1):c.506G>A (p.Arg169Gln) rs767519301 0.00001
NM_018105.3(THAP1):c.61T>G (p.Ser21Ala) rs1421233354 0.00001
NC_000008.10:g.(?_42693105)_(42698237_?)del
NC_000008.10:g.(?_42693361)_(42693532_?)del
NM_018105.2(THAP1):c.-236A>T rs184497763
NM_018105.2(THAP1):c.-240G>A rs187837632
NM_018105.2(THAP1):c.270_273del rs749414480
NM_018105.3(THAP1):c.*1235C>A rs528126268
NM_018105.3(THAP1):c.*139A>G rs1802642842
NM_018105.3(THAP1):c.*245T>C rs886062947
NM_018105.3(THAP1):c.*459A>C rs886062945
NM_018105.3(THAP1):c.*598A>G rs1396001366
NM_018105.3(THAP1):c.*777A>G rs1802628977
NM_018105.3(THAP1):c.*835A>G rs1480200060
NM_018105.3(THAP1):c.*877A>G rs1802627052
NM_018105.3(THAP1):c.-101C>G rs886062949
NM_018105.3(THAP1):c.-118G>A rs1434339831
NM_018105.3(THAP1):c.100_101insCA (p.Lys34fs)
NM_018105.3(THAP1):c.105A>G (p.Glu35=)
NM_018105.3(THAP1):c.108G>A (p.Trp36Ter) rs2128918637
NM_018105.3(THAP1):c.112G>A (p.Ala38Thr)
NM_018105.3(THAP1):c.112del (p.Ala38fs) rs1586457084
NM_018105.3(THAP1):c.115_116insGGCCGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATGGGAGGCAG (p.Ala38_Ala39insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluTrpGluAla)
NM_018105.3(THAP1):c.11C>T (p.Ser4Phe)
NM_018105.3(THAP1):c.131del (p.Asn44fs) rs1554599712
NM_018105.3(THAP1):c.134T>G (p.Phe45Cys)
NM_018105.3(THAP1):c.135T>C (p.Phe45=)
NM_018105.3(THAP1):c.135_139delinsGGGTTTA (p.Phe45fs) rs1586457060
NM_018105.3(THAP1):c.140CCA[1] (p.Thr48del) rs1563644832
NM_018105.3(THAP1):c.149A>G (p.Tyr50Cys) rs1554599710
NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr) rs1586459413
NM_018105.3(THAP1):c.153C>G (p.Ser51Arg) rs1802673093
NM_018105.3(THAP1):c.161G>C (p.Cys54Ser) rs1554599707
NM_018105.3(THAP1):c.164C>T (p.Ser55Leu) rs1586457027
NM_018105.3(THAP1):c.190_191del (p.Lys64fs)
NM_018105.3(THAP1):c.197_198del (p.Glu66fs) rs1802672249
NM_018105.3(THAP1):c.1A>T (p.Met1Leu) rs2128919290
NM_018105.3(THAP1):c.201CAA[2] (p.Asn69del) rs1563644810
NM_018105.3(THAP1):c.20C>A (p.Ala7Asp)
NM_018105.3(THAP1):c.229G>A (p.Val77Met)
NM_018105.3(THAP1):c.241T>C (p.Phe81Leu) rs118204013
NM_018105.3(THAP1):c.241T>G (p.Phe81Val)
NM_018105.3(THAP1):c.247T>C (p.Cys83Arg)
NM_018105.3(THAP1):c.25G>A (p.Gly9Ser) rs267607112
NM_018105.3(THAP1):c.25G>T (p.Gly9Cys) rs267607112
NM_018105.3(THAP1):c.260A>G (p.His87Arg) rs1392867750
NM_018105.3(THAP1):c.267+4A>G
NM_018105.3(THAP1):c.268-1G>C rs1802654414
NM_018105.3(THAP1):c.268-2A>G
NM_018105.3(THAP1):c.268-53_386del rs1802651118
NM_018105.3(THAP1):c.268-5T>C
NM_018105.3(THAP1):c.277C>A (p.Leu93Ile)
NM_018105.3(THAP1):c.289C>T (p.Gln97Ter) rs1554599616
NM_018105.3(THAP1):c.298C>T (p.Leu100Phe) rs1802653684
NM_018105.3(THAP1):c.2T>C (p.Met1Thr) rs1563646198
NM_018105.3(THAP1):c.2del (p.Met1fs)
NM_018105.3(THAP1):c.305dup (p.Pro103fs) rs1563644456
NM_018105.3(THAP1):c.314T>C (p.Leu105Ser)
NM_018105.3(THAP1):c.316C>T (p.Pro106Ser)
NM_018105.3(THAP1):c.318G>A (p.Pro106=)
NM_018105.3(THAP1):c.331C>T (p.Gln111Ter) rs1586456404
NM_018105.3(THAP1):c.348del (p.Ile116fs) rs2128918456
NM_018105.3(THAP1):c.355C>T (p.Leu119=)
NM_018105.3(THAP1):c.362C>T (p.Pro121Leu)
NM_018105.3(THAP1):c.373A>C (p.Thr125Pro)
NM_018105.3(THAP1):c.382A>C (p.Asn128His)
NM_018105.3(THAP1):c.387_399del (p.Ser130fs) rs1802650847
NM_018105.3(THAP1):c.388_389del (p.Val131fs) rs1586456350
NM_018105.3(THAP1):c.389C>G (p.Ser130Ter)
NM_018105.3(THAP1):c.395T>C (p.Phe132Ser)
NM_018105.3(THAP1):c.398G>A (p.Cys133Tyr)
NM_018105.3(THAP1):c.403C>T (p.His135Tyr) rs1802650746
NM_018105.3(THAP1):c.424A>G (p.Thr142Ala)
NM_018105.3(THAP1):c.426A>C (p.Thr142=)
NM_018105.3(THAP1):c.432C>T (p.His144=)
NM_018105.3(THAP1):c.43_45del (p.Asp15del) rs1478723907
NM_018105.3(THAP1):c.443G>A (p.Arg148Lys) rs1276100551
NM_018105.3(THAP1):c.449A>C (p.His150Pro)
NM_018105.3(THAP1):c.460C>G (p.Gln154Glu)
NM_018105.3(THAP1):c.460del (p.Gln154fs) rs1586456293
NM_018105.3(THAP1):c.464A>C (p.Gln155Pro)
NM_018105.3(THAP1):c.46A>G (p.Lys16Glu)
NM_018105.3(THAP1):c.474del (p.Lys158fs) rs1586456278
NM_018105.3(THAP1):c.482_485del (p.Lys161fs) rs2128918440
NM_018105.3(THAP1):c.496G>A (p.Ala166Thr)
NM_018105.3(THAP1):c.505C>T (p.Arg169Ter) rs1131691345
NM_018105.3(THAP1):c.511A>G (p.Arg171Gly)
NM_018105.3(THAP1):c.524G>A (p.Arg175Gln)
NM_018105.3(THAP1):c.525G>C (p.Arg175=)
NM_018105.3(THAP1):c.547G>T (p.Val183Phe) rs370082539
NM_018105.3(THAP1):c.576C>T (p.Asp192=)
NM_018105.3(THAP1):c.586A>G (p.Arg196Gly)
NM_018105.3(THAP1):c.594T>C (p.Tyr198=)
NM_018105.3(THAP1):c.604C>T (p.Pro202Ser)
NM_018105.3(THAP1):c.60T>C (p.Val20=)
NM_018105.3(THAP1):c.62C>T (p.Ser21Phe) rs1064797344
NM_018105.3(THAP1):c.63_66del (p.Phe22fs)
NM_018105.3(THAP1):c.64T>C (p.Phe22Leu)
NM_018105.3(THAP1):c.66C>T (p.Phe22=)
NM_018105.3(THAP1):c.68A>C (p.His23Pro) rs387907177
NM_018105.3(THAP1):c.68A>G (p.His23Arg) rs387907177
NM_018105.3(THAP1):c.70A>G (p.Lys24Glu) rs387907176
NM_018105.3(THAP1):c.71+16G>A
NM_018105.3(THAP1):c.71+20C>T
NM_018105.3(THAP1):c.71+8C>T
NM_018105.3(THAP1):c.71del (p.Lys24fs) rs1802756440
NM_018105.3(THAP1):c.72-10_72-9delinsGC rs1586457124
NM_018105.3(THAP1):c.77C>T (p.Pro26Leu) rs1802674870
NM_018105.3(THAP1):c.7C>T (p.Gln3Ter) rs1554599983
NM_018105.3(THAP1):c.85C>G (p.Arg29Gly)
NM_018105.3(THAP1):c.85C>T (p.Arg29Ter) rs2128918641
NM_018105.3(THAP1):c.86G>C (p.Arg29Pro) rs767952378
NM_018105.3(THAP1):c.94C>A (p.Leu32Ile)

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