ClinVar Miner

List of variants reported as pathogenic for combined dystonia

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 371
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HGVS dbSNP gnomAD frequency
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NR_104387.1(TAF1):n.5894C>T rs397509359 0.00009
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe) rs752452731 0.00003
NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu) rs267607069 0.00001
NM_001044.5(SLC6A3):c.1269+1G>A rs431905504 0.00001
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) rs431905516 0.00001
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter) rs121908492 0.00001
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) rs121908490 0.00001
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) rs794727794 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_015488.5(PNKD):c.97G>C (p.Ala33Pro) rs121434513 0.00001
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=) rs745970212 0.00001
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) rs886042013 0.00001
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp) rs387907128 0.00001
NM_145239.3(PRRT2):c.880-34G>A rs1239450803 0.00001
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831 0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) rs1301400509 0.00001
GRCh37/hg19 16p11.2(chr16:29495011-30206548)
GRCh37/hg19 7q21.3(chr7:93516132-95668733)
NC_000005.9:g.(?_1253823)_(1448148_?)del
NC_000005.9:g.(?_218471)_(1895829_?)del
NC_000007.13:g.(?_94228081)_(94232770_?)del
NC_000007.13:g.(?_94232582)_(94232784_?)del
NC_000007.13:g.(?_94248050)_(94248288_?)del
NC_000007.13:g.(?_94248050)_(94252729_?)del
NC_000007.13:g.(?_94252617)_(94252729_?)del
NC_000007.13:g.(?_94252627)_(94252719_?)del
NC_000007.13:g.(?_94257494)_(94285410_?)del
NC_000007.13:g.(?_94285282)_(94285410_?)del
NC_000007.14:g.(?_94395012)_(94656118_?)del
NC_000007.14:g.(?_94598775)_(94603452_?)del
NC_000007.14:g.(?_94628182)_(94628379_?)del
NC_000016.10:g.(?_29813035)_(29814658_?)del
NC_000016.10:g.(?_29813045)_(29814648_?)del
NC_000016.10:g.(?_29813055)_(29904965_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)del
NC_000016.9:g.(?_29802081)_(30200285_?)del
NC_000016.9:g.(?_29824744)_(29826559_?)del
NC_000016.9:g.(?_29825262)_(29830230_?)del
NC_000016.9:g.(?_29825620)_(29825969_?)del
NC_000019.10:g.(?_41968775)_(41970552_?)del
NC_000019.9:g.(?_42471089)_(42486278_?)del
NC_000019.9:g.(?_42479761)_(42492734_?)del
NC_000019.9:g.(?_42489050)_(42490401_?)del
NG_050658.1:g.(5235_69181)_(69440_100126)del
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_001044.5(SLC6A3):c.1031+1G>A rs431905514
NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln) rs267607068
NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)
NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro) rs431905515
NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer) rs1756409749
NM_001282684.2(KCTD17):c.413G>A (p.Arg138His) rs786205860
NM_001282684.2(KCTD17):c.547dup (p.Val183fs)
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu) rs1392638187
NM_003054.6(SLC18A2):c.216dup (p.Asp73fs)
NM_003054.6(SLC18A2):c.240_244del (p.Ser80_Tyr81insTer)
NM_003054.6(SLC18A2):c.33G>A (p.Trp11Ter) rs2133723906
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala) rs1589981178
NM_003690.5(PRKRA):c.267_268del (p.His89fs) rs730880307
NM_003919.2(SGCE):c.464_662del
NM_003919.3(SGCE):c.1011del (p.Ala336_Tyr337insTer) rs2116693521
NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)
NM_003919.3(SGCE):c.1042_1043del (p.Lys348fs)
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)
NM_003919.3(SGCE):c.109+1G>A rs1808615750
NM_003919.3(SGCE):c.109+2T>C rs2117137466
NM_003919.3(SGCE):c.1151del (p.Leu384fs)
NM_003919.3(SGCE):c.1208_1209del (p.Thr403fs)
NM_003919.3(SGCE):c.1210_1213del (p.Asp404fs) rs886039595
NM_003919.3(SGCE):c.1296dup (p.Gly433fs) rs2116568066
NM_003919.3(SGCE):c.129_130delinsT (p.Lys43fs) rs1804394258
NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter) rs2116972912
NM_003919.3(SGCE):c.158C>A (p.Ser53Ter)
NM_003919.3(SGCE):c.191_197dup (p.Tyr66Ter) rs2116972508
NM_003919.3(SGCE):c.193_194del (p.Glu65fs) rs2116972578
NM_003919.3(SGCE):c.232+1G>C
NM_003919.3(SGCE):c.232+1G>T rs1057517990
NM_003919.3(SGCE):c.235G>T (p.Glu79Ter)
NM_003919.3(SGCE):c.252_253del (p.Ile85fs)
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter)
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003919.3(SGCE):c.300del (p.Trp100fs) rs1554358727
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg) rs1584692239
NM_003919.3(SGCE):c.321del (p.Pro108fs) rs2116959244
NM_003919.3(SGCE):c.344A>G (p.Tyr115Cys) rs2116958989
NM_003919.3(SGCE):c.353dup (p.Thr119fs)
NM_003919.3(SGCE):c.37_38insA (p.Cys13Ter) rs766778442
NM_003919.3(SGCE):c.391-1G>A rs1803142505
NM_003919.3(SGCE):c.391-1G>T
NM_003919.3(SGCE):c.391-82_405del
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter) rs1554355416
NM_003919.3(SGCE):c.444_447del (p.Ile148_Asn149insTer) rs1584663425
NM_003919.3(SGCE):c.448_452del (p.Ile150fs) rs2116918021
NM_003919.3(SGCE):c.463+1G>A rs1584663290
NM_003919.3(SGCE):c.463+2T>A rs2116917821
NM_003919.3(SGCE):c.470del (p.Pro157fs) rs1554353106
NM_003919.3(SGCE):c.483del (p.Ala162fs)
NM_003919.3(SGCE):c.495_498del (p.Phe165fs) rs2116882526
NM_003919.3(SGCE):c.521del (p.Met174fs) rs2116882157
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) rs1064794321
NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer) rs1554352906
NM_003919.3(SGCE):c.571_572del (p.Trp191fs) rs2116881558
NM_003919.3(SGCE):c.579del (p.Glu194fs)
NM_003919.3(SGCE):c.580del (p.Glu194fs) rs2116881481
NM_003919.3(SGCE):c.587T>G (p.Leu196Arg) rs121908491
NM_003919.3(SGCE):c.604dup (p.Thr202fs) rs2116881189
NM_003919.3(SGCE):c.610del (p.Ala204fs) rs1584637958
NM_003919.3(SGCE):c.619_620del (p.Arg207fs) rs863223285
NM_003919.3(SGCE):c.619del (p.Arg207fs) rs1554352819
NM_003919.3(SGCE):c.623_650del (p.Gly208fs) rs2116880618
NM_003919.3(SGCE):c.639dup (p.Pro214fs)
NM_003919.3(SGCE):c.658del (p.Glu220fs) rs2116880537
NM_003919.3(SGCE):c.662G>T (p.Gly221Val) rs2116880447
NM_003919.3(SGCE):c.663-2A>T rs2116724997
NM_003919.3(SGCE):c.663-6109_825+550del
NM_003919.3(SGCE):c.663del (p.Val222fs) rs1562812370
NM_003919.3(SGCE):c.667del (p.Tyr223fs) rs1057519246
NM_003919.3(SGCE):c.703dup (p.Cys235fs)
NM_003919.3(SGCE):c.704_707del (p.Cys235fs) rs2116724268
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter) rs398123812
NM_003919.3(SGCE):c.723_724dup (p.Pro242fs) rs2116723835
NM_003919.3(SGCE):c.727C>T (p.Gln243Ter) rs1554345170
NM_003919.3(SGCE):c.733C>T (p.Gln245Ter) rs1554345162
NM_003919.3(SGCE):c.734_737del (p.Gln245fs)
NM_003919.3(SGCE):c.742dup (p.Cys248fs)
NM_003919.3(SGCE):c.751G>T (p.Glu251Ter) rs2116723386
NM_003919.3(SGCE):c.774_775del (p.Cys258_Asp259delinsTer)
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter)
NM_003919.3(SGCE):c.783dup (p.Phe262fs) rs1189469219
NM_003919.3(SGCE):c.786del (p.Arg263fs) rs1584546238
NM_003919.3(SGCE):c.793C>T (p.Gln265Ter) rs1584546131
NM_003919.3(SGCE):c.795del (p.Gln265fs) rs1554345077
NM_003919.3(SGCE):c.799del (p.Tyr267fs) rs1799563986
NM_003919.3(SGCE):c.802dup (p.Ile268fs) rs2116722561
NM_003919.3(SGCE):c.809G>A (p.Trp270Ter)
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter) rs1562811414
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr) rs372686312
NM_003919.3(SGCE):c.813C>A (p.Cys271Ter) rs2116722345
NM_003919.3(SGCE):c.825+1G>T
NM_003919.3(SGCE):c.825+1_825+2del rs1554345052
NM_003919.3(SGCE):c.835_839del (p.Thr279fs) rs863223283
NM_003919.3(SGCE):c.841C>T (p.Gln281Ter) rs1562806242
NM_003919.3(SGCE):c.850del (p.Thr284fs) rs2116695873
NM_003919.3(SGCE):c.865_866insGCAGGAAGTGA (p.Ile289delinsSerArgLysTer) rs2116695697
NM_003919.3(SGCE):c.880dup (p.Ile294fs) rs1562805960
NM_003919.3(SGCE):c.884dup (p.Leu295fs) rs863223284
NM_003919.3(SGCE):c.895G>T (p.Gly299Ter) rs765792098
NM_003919.3(SGCE):c.896dup (p.Glu300fs)
NM_003919.3(SGCE):c.898_899del (p.Glu300fs)
NM_003919.3(SGCE):c.898_925del (p.Glu300fs)
NM_003919.3(SGCE):c.903C>A (p.Tyr301Ter) rs1322313531
NM_003919.3(SGCE):c.904_908dup (p.Pro304fs) rs2116694965
NM_003919.3(SGCE):c.942C>A (p.Tyr314Ter) rs2116694543
NM_003919.3(SGCE):c.942C>G (p.Tyr314Ter) rs2116694543
NM_003919.3(SGCE):c.946del (p.Asp316fs)
NM_003919.3(SGCE):c.974del (p.Ser325fs) rs1584531843
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile) rs80359812
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs) rs1643457017
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs) rs2124447951
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs) rs2124446490
NM_006516.4(SLC2A1):c.1141del (p.Val381fs)
NM_006516.4(SLC2A1):c.115-2A>C rs2124450950
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys) rs796053263
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs) rs2124446305
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs) rs2124445661
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter)
NM_006516.4(SLC2A1):c.19-2A>G rs796053272
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val) rs2124478725
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile) rs267607060
NM_006516.4(SLC2A1):c.293del (p.Met98fs) rs1643481831
NM_006516.4(SLC2A1):c.29del (p.Gly10fs) rs2124461926
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.37dup (p.Met13fs) rs2124461913
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile) rs1057520545
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val) rs2124449452
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys) rs387907312
NM_006516.4(SLC2A1):c.635del (p.Arg212fs) rs2124449287
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) rs1570592604
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter) rs2124449015
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.844_855del (p.Gln282_Ser285del) rs1553156047
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr) rs2124448406
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=) rs796053254
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_015488.5(PNKD):c.26C>T (p.Ala9Val) rs121434511
NM_015836.4(WARS2):c.149G>A (p.Gly50Asp) rs1571323203
NM_015836.4(WARS2):c.295CTT[1] (p.Leu100del) rs772867219
NM_015836.4(WARS2):c.622G>T (p.Glu208Ter) rs137890886
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp) rs1647600390
NM_145239.3(PRRT2):c.1007del (p.Asn335_Leu336insTer)
NM_145239.3(PRRT2):c.1021T>C (p.Ter341Arg) rs1403034524
NM_145239.3(PRRT2):c.106del (p.Gln36fs) rs1596889984
NM_145239.3(PRRT2):c.121del (p.Val41fs)
NM_145239.3(PRRT2):c.189del (p.Lys64fs) rs1900067836
NM_145239.3(PRRT2):c.210_211del (p.Glu70fs) rs886041579
NM_145239.3(PRRT2):c.224dup (p.Ala76fs) rs2142423194
NM_145239.3(PRRT2):c.268dup (p.Ser90fs) rs2142423439
NM_145239.3(PRRT2):c.27dup (p.Glu10Ter) rs1900057283
NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs) rs1900074141
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
NM_145239.3(PRRT2):c.284C>G (p.Ser95Ter)
NM_145239.3(PRRT2):c.298del (p.Ser100fs)
NM_145239.3(PRRT2):c.303del (p.Glu102fs) rs1596890692
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.347_348del (p.Lys116fs)
NM_145239.3(PRRT2):c.407_408del (p.Pro136fs)
NM_145239.3(PRRT2):c.422_432dup (p.Arg145fs)
NM_145239.3(PRRT2):c.449dup (p.Thr151fs) rs1900085480
NM_145239.3(PRRT2):c.456del (p.Lys153fs)
NM_145239.3(PRRT2):c.469C>T (p.Gln157Ter)
NM_145239.3(PRRT2):c.483_487dup (p.Gln163fs)
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter) rs387907127
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)
NM_145239.3(PRRT2):c.503del (p.Pro168fs) rs2142424961
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs) rs730882065
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter) rs730882068
NM_145239.3(PRRT2):c.520_521del (p.Ser174fs)
NM_145239.3(PRRT2):c.535C>T (p.Gln179Ter) rs2142425167
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs) rs1555502708
NM_145239.3(PRRT2):c.543_544del (p.Asn181fs) rs2142425196
NM_145239.3(PRRT2):c.547dup (p.Ala183fs)
NM_145239.3(PRRT2):c.55A>T (p.Lys19Ter)
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter) rs397514578
NM_145239.3(PRRT2):c.579dup (p.Glu194fs) rs1900093244
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) rs1260966131
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) rs1064793851
NM_145239.3(PRRT2):c.629del (p.Pro210fs) rs730882067
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.639_640insC (p.Ala214fs) rs2142425874
NM_145239.3(PRRT2):c.640dup (p.Ala214fs)
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.653_660dup (p.Gln221fs) rs1900100925
NM_145239.3(PRRT2):c.658C>T (p.Gln220Ter) rs1217390170
NM_145239.3(PRRT2):c.661C>T (p.Gln221Ter) rs1567379819
NM_145239.3(PRRT2):c.679C>T (p.Arg227Ter)
NM_145239.3(PRRT2):c.697_698del (p.Ser233fs) rs1596892401
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.739_740delinsG (p.Pro247fs)
NM_145239.3(PRRT2):c.741del (p.Ser248fs)
NM_145239.3(PRRT2):c.742del (p.Ser248fs) rs2142426594
NM_145239.3(PRRT2):c.742dup (p.Ser248fs) rs1596892633
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) rs397514579
NM_145239.3(PRRT2):c.769_778del (p.Glu257fs) rs886041960
NM_145239.3(PRRT2):c.776del (p.Gly259fs) rs1900111672
NM_145239.3(PRRT2):c.776dup (p.Gly259_Glu260insTer) rs1900111672
NM_145239.3(PRRT2):c.787C>T (p.Gln263Ter)
NM_145239.3(PRRT2):c.799del (p.Asp267fs) rs1567380076
NM_145239.3(PRRT2):c.834C>A (p.Cys278Ter) rs758654999
NM_145239.3(PRRT2):c.842G>A (p.Trp281Ter) rs2142427166
NM_145239.3(PRRT2):c.843G>A (p.Trp281Ter) rs1596893055
NM_145239.3(PRRT2):c.848_863del (p.Val283fs) rs1596893071
NM_145239.3(PRRT2):c.870T>G (p.Tyr290Ter) rs1244255905
NM_145239.3(PRRT2):c.880-1G>A rs1596893952
NM_145239.3(PRRT2):c.880-1G>C rs1596893952
NM_145239.3(PRRT2):c.880-1G>T rs1596893952
NM_145239.3(PRRT2):c.885del (p.Asn296fs)
NM_145239.3(PRRT2):c.895C>T (p.Gln299Ter)
NM_145239.3(PRRT2):c.913G>C (p.Gly305Arg)
NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro) rs727504111
NM_145239.3(PRRT2):c.916_924del (p.Ala306_Arg308del)
NM_145239.3(PRRT2):c.916_934del (p.Gly305_Ala306insTer) rs2142428932
NM_145239.3(PRRT2):c.921del (p.Gln307fs) rs1900137777
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145239.3(PRRT2):c.922_923del (p.Arg308fs)
NM_145239.3(PRRT2):c.936_965del (p.Ala313_Val322del)
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn) rs387907125
NM_145239.3(PRRT2):c.970G>T (p.Gly324Ter) rs906768870
NM_145239.3(PRRT2):c.971G>A (p.Gly324Glu) rs796052938
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941
NM_145239.3(PRRT2):c.971dup (p.Val325fs) rs796052941
NM_145239.3(PRRT2):c.972_975del (p.Val325fs) rs1555502908
NM_145239.3(PRRT2):c.972del (p.Val325fs) rs730882066
NM_145239.3(PRRT2):c.976del (p.Leu326fs)
NM_145239.3(PRRT2):c.991del (p.Ser331fs)
NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser) rs606231432
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys) rs606231432
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr) rs2145972483
NM_152296.5(ATP1A3):c.1299del (p.Lys434fs)
NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter) rs2145971509
NM_152296.5(ATP1A3):c.1784_1792del (p.Lys595_Arg597del)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter) rs1555861946
NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter) rs782105093
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro) rs2075159021
NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp) rs2075158829
NM_152296.5(ATP1A3):c.2167G>C (p.Ala723Pro)
NM_152296.5(ATP1A3):c.2224GAC[1] (p.Asp743del)
NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val) rs2145959393
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser) rs557052809
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) rs557052809
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala) rs606231434
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser) rs80356535
NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn) rs1064795234
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) rs606231437
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu) rs80356536
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr) rs80356537
NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp) rs1555859571
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu) rs606231439
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2542+1G>A rs606231441
NM_152296.5(ATP1A3):c.2542+1G>C rs606231441
NM_152296.5(ATP1A3):c.2652dup (p.Val885fs) rs2145945849
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152296.5(ATP1A3):c.2673_2678del (p.Ser891_Gly893delinsArg) rs2145945805
NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg) rs1568853466
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del) rs606231443
NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)
NM_152296.5(ATP1A3):c.2763G>A (p.Trp921Ter) rs1060500993
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His) rs267606670
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala) rs2075071528
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro) rs1555859157
NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.2902del (p.Leu968fs)
NM_152296.5(ATP1A3):c.2966_2996del (p.Phe989fs)
NM_152296.5(ATP1A3):c.3013+1G>A rs2145941195
NM_152296.5(ATP1A3):c.3035ACT[3] (p.Tyr1013dup) rs397515382
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr) rs542652468
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) rs542652468
NM_152296.5(ATP1A3):c.562C>T (p.Arg188Ter) rs2075282510
NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr) rs80356532
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) rs869320661
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met) rs529241207
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) rs879255368
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg) rs1131691307
NM_153266.4(TMEM151A):c.1043G>A (p.Trp348Ter)
NM_153266.4(TMEM151A):c.1085A>G (p.Glu362Gly)
NM_153266.4(TMEM151A):c.1275dup (p.Pro426fs)
NM_153266.4(TMEM151A):c.166G>C (p.Gly56Arg)
NM_153266.4(TMEM151A):c.375C>A (p.Cys125Ter)
NM_153266.4(TMEM151A):c.606_607insA (p.Val203fs)
NM_153266.4(TMEM151A):c.758T>C (p.Leu253Pro)
NM_153266.4(TMEM151A):c.791T>C (p.Val264Ala)
NM_153266.4(TMEM151A):c.897_912del (p.Leu300fs)
TAF1, SVA RETROTRANSPOSON INSERTION

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