ClinVar Miner

List of variants reported as uncertain significance for Myoclonic dystonia 11

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 265
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003919.2(SGCE):c.-84T>C rs747133401 0.00052
NM_003919.2(SGCE):c.-97G>A rs529057223 0.00037
NM_003919.3(SGCE):c.*172T>C rs112954947 0.00033
NM_003919.3(SGCE):c.429G>T (p.Arg143Ser) rs145010266 0.00019
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) rs370609227 0.00015
NM_003919.3(SGCE):c.328A>G (p.Ser110Gly) rs370382282 0.00012
NM_003919.3(SGCE):c.787C>T (p.Arg263Cys) rs199871508 0.00012
NM_003919.3(SGCE):c.905A>T (p.Lys302Ile) rs762287154 0.00012
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) rs17851923 0.00007
NM_000795.4(DRD2):c.460G>A (p.Val154Ile) rs104894220 0.00006
NM_003919.3(SGCE):c.235G>A (p.Glu79Lys) rs375983969 0.00006
NM_003919.3(SGCE):c.409C>T (p.Arg137Cys) rs557861177 0.00006
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_003919.3(SGCE):c.1060C>T (p.Pro354Ser) rs983156830 0.00004
NM_003919.3(SGCE):c.1177G>A (p.Val393Met) rs150797717 0.00004
NM_003919.3(SGCE):c.142C>T (p.Arg48Trp) rs760964336 0.00004
NM_003919.3(SGCE):c.305G>A (p.Arg102Gln) rs753195301 0.00004
NM_003919.3(SGCE):c.445A>G (p.Asn149Asp) rs780589840 0.00004
NM_003919.3(SGCE):c.59G>A (p.Arg20Gln) rs759241679 0.00004
NM_003919.3(SGCE):c.712G>C (p.Glu238Gln) rs200035109 0.00004
NM_003919.3(SGCE):c.763G>A (p.Val255Ile) rs759032005 0.00004
NM_003919.3(SGCE):c.895G>A (p.Gly299Arg) rs765792098 0.00004
NM_003919.3(SGCE):c.1033G>A (p.Gly345Ser) rs553677309 0.00003
NM_003919.3(SGCE):c.1036G>A (p.Val346Met) rs533652380 0.00003
NM_003919.3(SGCE):c.1141G>A (p.Ala381Thr) rs1341048280 0.00003
NM_003919.3(SGCE):c.143G>A (p.Arg48Gln) rs148483382 0.00003
NM_003919.3(SGCE):c.14G>T (p.Arg5Leu) rs147148588 0.00003
NM_003919.3(SGCE):c.410G>A (p.Arg137His) rs548306335 0.00003
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) rs768233445 0.00003
NM_003919.3(SGCE):c.471G>A (p.Pro157=) rs747531940 0.00003
NM_003919.3(SGCE):c.662+6C>T rs761449603 0.00003
NM_003919.3(SGCE):c.692C>T (p.Pro231Leu) rs755996611 0.00003
NM_003919.3(SGCE):c.764T>C (p.Val255Ala) rs773893939 0.00003
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln) rs764696852 0.00002
NM_003919.3(SGCE):c.1027C>T (p.Arg343Trp) rs757796461 0.00002
NM_003919.3(SGCE):c.1310C>T (p.Pro437Leu) rs778866625 0.00002
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn) rs199787155 0.00002
NM_003919.3(SGCE):c.421_423dup (p.Thr141dup) rs539327067 0.00002
NM_003919.3(SGCE):c.5A>C (p.Gln2Pro) rs755191122 0.00002
NM_003919.3(SGCE):c.716T>C (p.Val239Ala) rs142833106 0.00002
NM_003919.3(SGCE):c.1015A>G (p.Met339Val) rs866020566 0.00001
NM_003919.3(SGCE):c.1028G>A (p.Arg343Gln) rs755083075 0.00001
NM_003919.3(SGCE):c.1051A>G (p.Met351Val) rs1206683317 0.00001
NM_003919.3(SGCE):c.1054C>A (p.Gln352Lys) rs1562803158 0.00001
NM_003919.3(SGCE):c.1063G>C (p.Asp355His) rs1798915911 0.00001
NM_003919.3(SGCE):c.1064+5G>C rs767951166 0.00001
NM_003919.3(SGCE):c.1065-3T>C rs965437968 0.00001
NM_003919.3(SGCE):c.1109A>G (p.Glu370Gly) rs781699232 0.00001
NM_003919.3(SGCE):c.1115G>A (p.Arg372Gln) rs373904456 0.00001
NM_003919.3(SGCE):c.11C>T (p.Pro4Leu) rs372207991 0.00001
NM_003919.3(SGCE):c.1247C>T (p.Thr416Met) rs560154922 0.00001
NM_003919.3(SGCE):c.1275G>C (p.Gln425His) rs762720842 0.00001
NM_003919.3(SGCE):c.1285C>G (p.Gln429Glu) rs371568101 0.00001
NM_003919.3(SGCE):c.13C>G (p.Arg5Gly) rs966640985 0.00001
NM_003919.3(SGCE):c.147T>G (p.Asn49Lys) rs772230342 0.00001
NM_003919.3(SGCE):c.194A>T (p.Glu65Val) rs1804379561 0.00001
NM_003919.3(SGCE):c.19T>C (p.Trp7Arg) rs1271444866 0.00001
NM_003919.3(SGCE):c.220T>C (p.Tyr74His) rs1804372933 0.00001
NM_003919.3(SGCE):c.232+4T>C rs372244157 0.00001
NM_003919.3(SGCE):c.241A>G (p.Ser81Gly) rs758164053 0.00001
NM_003919.3(SGCE):c.24G>C (p.Glu8Asp) rs1808633312 0.00001
NM_003919.3(SGCE):c.283C>T (p.Pro95Ser) rs1187045400 0.00001
NM_003919.3(SGCE):c.290G>A (p.Arg97Gln) rs11548285 0.00001
NM_003919.3(SGCE):c.358G>A (p.Ala120Thr) rs1234121565 0.00001
NM_003919.3(SGCE):c.45G>A (p.Trp15Ter) rs1295669429 0.00001
NM_003919.3(SGCE):c.500A>G (p.Lys167Arg) rs779127500 0.00001
NM_003919.3(SGCE):c.547T>C (p.Phe183Leu) rs1003818215 0.00001
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr) rs746585235 0.00001
NM_003919.3(SGCE):c.584G>A (p.Arg195His) rs746331571 0.00001
NM_003919.3(SGCE):c.597A>G (p.Ile199Met) rs777920643 0.00001
NM_003919.3(SGCE):c.617A>G (p.Asp206Gly) rs727504150 0.00001
NM_003919.3(SGCE):c.656A>T (p.Lys219Met) rs1802319616 0.00001
NM_003919.3(SGCE):c.664G>A (p.Val222Ile) rs754956483 0.00001
NM_003919.3(SGCE):c.704G>C (p.Cys235Ser) rs958186178 0.00001
NM_003919.3(SGCE):c.77G>A (p.Ser26Asn) rs773531358 0.00001
NM_003919.3(SGCE):c.799T>A (p.Tyr267Asn) rs781326840 0.00001
NM_003919.3(SGCE):c.850A>G (p.Thr284Ala) rs986900959 0.00001
NM_003919.3(SGCE):c.856C>G (p.Gln286Glu) rs775468466 0.00001
NM_003919.3(SGCE):c.884T>C (p.Leu295Ser) rs142079200 0.00001
NM_003919.3(SGCE):c.892G>A (p.Gly298Ser) rs757835571 0.00001
NM_003919.3(SGCE):c.94A>G (p.Thr32Ala) rs955348597 0.00001
NM_003919.3(SGCE):c.967G>A (p.Val323Met) rs147550814 0.00001
NM_003919.3(SGCE):c.974C>T (p.Ser325Leu) rs559353446 0.00001
NC_000007.13:g.(?_94214811)_(94252729_?)dup
NC_000007.13:g.(?_94285282)_(94285430_?)dup
NM_003919.3(SGCE):c.1003C>T (p.Leu335Phe) rs1799068772
NM_003919.3(SGCE):c.1010A>G (p.Tyr337Cys) rs1799066913
NM_003919.3(SGCE):c.1012A>G (p.Ile338Val)
NM_003919.3(SGCE):c.1013T>C (p.Ile338Thr)
NM_003919.3(SGCE):c.1016T>C (p.Met339Thr) rs1468730105
NM_003919.3(SGCE):c.1037+3del
NM_003919.3(SGCE):c.1038G>C (p.Val346=) rs1584526749
NM_003919.3(SGCE):c.1046G>C (p.Arg349Thr) rs1798921521
NM_003919.3(SGCE):c.104T>C (p.Leu35Pro) rs2117137538
NM_003919.3(SGCE):c.1052T>C (p.Met351Thr)
NM_003919.3(SGCE):c.1058C>A (p.Thr353Lys) rs2116684872
NM_003919.3(SGCE):c.1064+3_1064+6del rs1304738505
NM_003919.3(SGCE):c.1065C>T (p.Asp355=) rs886062520
NM_003919.3(SGCE):c.1072C>G (p.Leu358Val)
NM_003919.3(SGCE):c.1075G>A (p.Val359Ile)
NM_003919.3(SGCE):c.1075G>C (p.Val359Leu)
NM_003919.3(SGCE):c.1078C>T (p.His360Tyr) rs2116677287
NM_003919.3(SGCE):c.107C>T (p.Thr36Ile) rs2117137516
NM_003919.3(SGCE):c.109+3dup rs2117137426
NM_003919.3(SGCE):c.109+4A>G
NM_003919.3(SGCE):c.1091T>C (p.Ile364Thr) rs1798813790
NM_003919.3(SGCE):c.109G>A (p.Val37Met) rs1562916805
NM_003919.3(SGCE):c.110-9608G>A rs2117037022
NM_003919.3(SGCE):c.1106A>G (p.Lys369Arg) rs753092622
NM_003919.3(SGCE):c.1121T>C (p.Met374Thr) rs751967746
NM_003919.3(SGCE):c.1122G>A (p.Met374Ile) rs1798808645
NM_003919.3(SGCE):c.1129A>C (p.Asn377His) rs763064939
NM_003919.3(SGCE):c.1134A>C (p.Arg378Ser) rs886043602
NM_003919.3(SGCE):c.1135G>A (p.Glu379Lys)
NM_003919.3(SGCE):c.1139T>C (p.Ile380Thr) rs765193255
NM_003919.3(SGCE):c.1139T>G (p.Ile380Arg) rs765193255
NM_003919.3(SGCE):c.1141G>C (p.Ala381Pro) rs1341048280
NM_003919.3(SGCE):c.1151T>G (p.Leu384Arg) rs2116675766
NM_003919.3(SGCE):c.1153T>C (p.Ser385Pro) rs1274760811
NM_003919.3(SGCE):c.1156A>G (p.Thr386Ala)
NM_003919.3(SGCE):c.1157C>G (p.Thr386Arg) rs370800943
NM_003919.3(SGCE):c.1157C>T (p.Thr386Met)
NM_003919.3(SGCE):c.1178T>C (p.Val393Ala)
NM_003919.3(SGCE):c.1186G>A (p.Glu396Lys) rs781781262
NM_003919.3(SGCE):c.1195C>G (p.Pro399Ala) rs747427574
NM_003919.3(SGCE):c.1195C>T (p.Pro399Ser)
NM_003919.3(SGCE):c.1196C>G (p.Pro399Arg)
NM_003919.3(SGCE):c.1198C>T (p.Pro400Ser) rs2116674435
NM_003919.3(SGCE):c.1202T>C (p.Leu401Ser)
NM_003919.3(SGCE):c.1214A>G (p.Asn405Ser) rs1584521458
NM_003919.3(SGCE):c.1217A>G (p.Tyr406Cys)
NM_003919.3(SGCE):c.1234C>T (p.Pro412Ser)
NM_003919.3(SGCE):c.1238T>C (p.Leu413Ser) rs1562800480
NM_003919.3(SGCE):c.1253+2dup rs1798783016
NM_003919.3(SGCE):c.1253+799G>A
NM_003919.3(SGCE):c.1265A>C (p.His422Pro)
NM_003919.3(SGCE):c.1271C>G (p.Thr424Ser)
NM_003919.3(SGCE):c.1277T>C (p.Ile426Thr) rs1023091295
NM_003919.3(SGCE):c.1294A>G (p.Thr432Ala)
NM_003919.3(SGCE):c.1295C>T (p.Thr432Ile)
NM_003919.3(SGCE):c.1298-14C>A
NM_003919.3(SGCE):c.133C>A (p.His45Asn)
NM_003919.3(SGCE):c.133C>T (p.His45Tyr)
NM_003919.3(SGCE):c.139G>T (p.Asp47Tyr)
NM_003919.3(SGCE):c.148G>A (p.Val50Ile) rs1562867795
NM_003919.3(SGCE):c.158C>T (p.Ser53Leu) rs1231727428
NM_003919.3(SGCE):c.169C>T (p.Leu57Phe)
NM_003919.3(SGCE):c.172T>A (p.Phe58Ile)
NM_003919.3(SGCE):c.172T>C (p.Phe58Leu)
NM_003919.3(SGCE):c.176T>C (p.Val59Ala) rs1584700773
NM_003919.3(SGCE):c.210A>T (p.Glu70Asp) rs907043992
NM_003919.3(SGCE):c.218C>T (p.Pro73Leu) rs758030589
NM_003919.3(SGCE):c.21G>C (p.Trp7Cys)
NM_003919.3(SGCE):c.22G>C (p.Glu8Gln) rs1341174498
NM_003919.3(SGCE):c.232+3A>G rs2116971996
NM_003919.3(SGCE):c.232+4del rs1554359605
NM_003919.3(SGCE):c.232+5G>A rs1554359595
NM_003919.3(SGCE):c.246T>G (p.Asn82Lys)
NM_003919.3(SGCE):c.257C>G (p.Thr86Arg)
NM_003919.3(SGCE):c.259T>C (p.Phe87Leu) rs1043859833
NM_003919.3(SGCE):c.263A>G (p.Asn88Ser)
NM_003919.3(SGCE):c.268A>T (p.Asn90Tyr) rs1292233652
NM_003919.3(SGCE):c.287A>G (p.Asp96Gly) rs1804079600
NM_003919.3(SGCE):c.288C>A (p.Asp96Glu) rs1804079106
NM_003919.3(SGCE):c.28G>T (p.Gly10Ter)
NM_003919.3(SGCE):c.298T>C (p.Trp100Arg) rs2116959521
NM_003919.3(SGCE):c.300G>C (p.Trp100Cys) rs2116959448
NM_003919.3(SGCE):c.301C>A (p.Leu101Ile)
NM_003919.3(SGCE):c.31G>C (p.Asp11His)
NM_003919.3(SGCE):c.320C>T (p.Thr107Ile)
NM_003919.3(SGCE):c.32A>G (p.Asp11Gly) rs1021265778
NM_003919.3(SGCE):c.335G>A (p.Gly112Glu) rs2116959049
NM_003919.3(SGCE):c.370G>A (p.Gly124Arg) rs142076876
NM_003919.3(SGCE):c.380C>G (p.Thr127Arg)
NM_003919.3(SGCE):c.386T>C (p.Ile129Thr) rs1554358639
NM_003919.3(SGCE):c.390+3A>C
NM_003919.3(SGCE):c.390+4A>G
NM_003919.3(SGCE):c.409C>A (p.Arg137Ser) rs557861177
NM_003919.3(SGCE):c.410G>C (p.Arg137Pro)
NM_003919.3(SGCE):c.413C>A (p.Thr138Asn) rs777335847
NM_003919.3(SGCE):c.413C>G (p.Thr138Ser) rs777335847
NM_003919.3(SGCE):c.41C>T (p.Ala14Val) rs2117138245
NM_003919.3(SGCE):c.434A>G (p.Asn145Ser)
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) rs752074255
NM_003919.3(SGCE):c.440T>G (p.Ile147Arg) rs1803133053
NM_003919.3(SGCE):c.441_443del (p.Ile148del)
NM_003919.3(SGCE):c.443T>A (p.Ile148Asn)
NM_003919.3(SGCE):c.446A>C (p.Asn149Thr) rs991557646
NM_003919.3(SGCE):c.450_452del (p.Ile150del) rs886062522
NM_003919.3(SGCE):c.452T>A (p.Met151Lys) rs750679376
NM_003919.3(SGCE):c.458C>T (p.Ala153Val) rs1482958226
NM_003919.3(SGCE):c.463+5G>C rs1210401434
NM_003919.3(SGCE):c.463+6T>G rs754002445
NM_003919.3(SGCE):c.475C>T (p.Pro159Ser) rs1802351511
NM_003919.3(SGCE):c.484G>A (p.Ala162Thr)
NM_003919.3(SGCE):c.492C>A (p.Phe164Leu)
NM_003919.3(SGCE):c.4C>T (p.Gln2Ter)
NM_003919.3(SGCE):c.506T>C (p.Met169Thr) rs1293308593
NM_003919.3(SGCE):c.521T>A (p.Met174Lys)
NM_003919.3(SGCE):c.521T>C (p.Met174Thr)
NM_003919.3(SGCE):c.535G>A (p.Val179Ile) rs762854508
NM_003919.3(SGCE):c.536T>C (p.Val179Ala) rs886062521
NM_003919.3(SGCE):c.538C>A (p.Leu180Ile)
NM_003919.3(SGCE):c.550C>T (p.Leu184Phe) rs761551499
NM_003919.3(SGCE):c.557C>G (p.Ala186Gly)
NM_003919.3(SGCE):c.557C>T (p.Ala186Val)
NM_003919.3(SGCE):c.55G>A (p.Gly19Ser) rs767335346
NM_003919.3(SGCE):c.577C>T (p.Pro193Ser)
NM_003919.3(SGCE):c.583C>T (p.Arg195Cys)
NM_003919.3(SGCE):c.61G>A (p.Gly21Arg)
NM_003919.3(SGCE):c.627C>T (p.Gly209=) rs1395758109
NM_003919.3(SGCE):c.632T>G (p.Val211Gly)
NM_003919.3(SGCE):c.643A>G (p.Ile215Val)
NM_003919.3(SGCE):c.646A>G (p.Asn216Asp) rs2116880651
NM_003919.3(SGCE):c.651C>A (p.Asp217Glu) rs2116880601
NM_003919.3(SGCE):c.663-3C>G rs2116725021
NM_003919.3(SGCE):c.663C>G (p.Gly221=) rs781270494
NM_003919.3(SGCE):c.670G>C (p.Val224Leu) rs374149816
NM_003919.3(SGCE):c.674T>C (p.Met225Thr)
NM_003919.3(SGCE):c.677T>C (p.Val226Ala) rs1799584951
NM_003919.3(SGCE):c.67C>T (p.Arg23Cys) rs774045225
NM_003919.3(SGCE):c.686A>T (p.Asp229Val)
NM_003919.3(SGCE):c.68G>T (p.Arg23Leu)
NM_003919.3(SGCE):c.693G>C (p.Pro231=)
NM_003919.3(SGCE):c.710G>A (p.Arg237Gln) rs1217843572
NM_003919.3(SGCE):c.722A>G (p.Asn241Ser)
NM_003919.3(SGCE):c.724C>T (p.Pro242Ser) rs1554345175
NM_003919.3(SGCE):c.729G>C (p.Gln243His)
NM_003919.3(SGCE):c.731A>C (p.Asn244Thr)
NM_003919.3(SGCE):c.741A>T (p.Arg247Ser) rs1799572106
NM_003919.3(SGCE):c.743G>A (p.Cys248Tyr) rs2116723467
NM_003919.3(SGCE):c.749A>G (p.Gln250Arg)
NM_003919.3(SGCE):c.754A>G (p.Met252Val)
NM_003919.3(SGCE):c.757G>A (p.Glu253Lys)
NM_003919.3(SGCE):c.770C>T (p.Thr257Ile)
NM_003919.3(SGCE):c.776A>T (p.Asp259Val) rs1799567842
NM_003919.3(SGCE):c.777T>G (p.Asp259Glu) rs2116723007
NM_003919.3(SGCE):c.788G>A (p.Arg263His) rs375899729
NM_003919.3(SGCE):c.790A>G (p.Thr264Ala)
NM_003919.3(SGCE):c.826-4T>G
NM_003919.3(SGCE):c.827T>C (p.Val276Ala)
NM_003919.3(SGCE):c.830A>C (p.Asp277Ala) rs1799105735
NM_003919.3(SGCE):c.836C>T (p.Thr279Ile)
NM_003919.3(SGCE):c.83C>T (p.Ala28Val)
NM_003919.3(SGCE):c.868C>A (p.Arg290Ser) rs576417569
NM_003919.3(SGCE):c.868C>G (p.Arg290Gly)
NM_003919.3(SGCE):c.871G>A (p.Gly291Arg)
NM_003919.3(SGCE):c.874G>C (p.Glu292Gln) rs1799100104
NM_003919.3(SGCE):c.878G>C (p.Gly293Ala)
NM_003919.3(SGCE):c.880A>T (p.Ile294Phe)
NM_003919.3(SGCE):c.890A>G (p.Asp297Gly)
NM_003919.3(SGCE):c.89C>G (p.Thr30Ser)
NM_003919.3(SGCE):c.906A>C (p.Lys302Asn)
NM_003919.3(SGCE):c.907C>T (p.Pro303Ser)
NM_003919.3(SGCE):c.927A>T (p.Lys309Asn)
NM_003919.3(SGCE):c.933A>C (p.Arg311Ser)
NM_003919.3(SGCE):c.934G>A (p.Asp312Asn)
NM_003919.3(SGCE):c.938A>G (p.Tyr313Cys) rs1208881777
NM_003919.3(SGCE):c.941A>C (p.Tyr314Ser) rs1799081982
NM_003919.3(SGCE):c.943A>G (p.Thr315Ala) rs2116694516
NM_003919.3(SGCE):c.944C>T (p.Thr315Met)
NM_003919.3(SGCE):c.956T>C (p.Ile319Thr) rs1799078606
NM_003919.3(SGCE):c.961C>A (p.Leu321Met) rs1562805321
NM_003919.3(SGCE):c.962T>C (p.Leu321Pro) rs1799076594
NM_003919.3(SGCE):c.998T>C (p.Leu333Pro)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.