ClinVar Miner

List of variants studied for Metachromatic leukodystrophy

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ClinVar version:
Total variants: 304
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HGVS dbSNP
ARSA, 1-BP DEL, 297C
NC_000022.11:g.(?_50625125)_(50627799_?)del
NG_009301.1:g.40570C>G rs564392413
NG_009301.1:g.40609G>A rs140312023
NG_009301.1:g.40968C>T rs75715348
NM_000046.4(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.4(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.219_230delCGCGCTGGCGGCinsG (p.Asp73Glufs)
NM_000046.5(ARSB):c.427del (p.Val143Serfs) rs766914147
NM_000487.5(ARSA):c.*1012C>T rs886057650
NM_000487.5(ARSA):c.*103C>T rs146160737
NM_000487.5(ARSA):c.*1062dupA rs763817529
NM_000487.5(ARSA):c.*1076A>T rs114833506
NM_000487.5(ARSA):c.*1206G>T rs867069706
NM_000487.5(ARSA):c.*1212T>G rs868201030
NM_000487.5(ARSA):c.*1213T>G rs886057649
NM_000487.5(ARSA):c.*1238T>G rs6010033
NM_000487.5(ARSA):c.*125C>G rs886057656
NM_000487.5(ARSA):c.*1267C>T rs886057648
NM_000487.5(ARSA):c.*130C>A rs886057655
NM_000487.5(ARSA):c.*1351C>G rs131717
NM_000487.5(ARSA):c.*1369C>T rs76841085
NM_000487.5(ARSA):c.*1372G>A rs190478606
NM_000487.5(ARSA):c.*1372G>T rs190478606
NM_000487.5(ARSA):c.*1404dupT rs746677403
NM_000487.5(ARSA):c.*1475C>G rs184515588
NM_000487.5(ARSA):c.*1476G>A rs8142531
NM_000487.5(ARSA):c.*1522C>A rs6009939
NM_000487.5(ARSA):c.*1570C>T rs79823940
NM_000487.5(ARSA):c.*1576A>C rs886057647
NM_000487.5(ARSA):c.*1617G>A rs886057646
NM_000487.5(ARSA):c.*1627G>C rs886057645
NM_000487.5(ARSA):c.*1629A>C rs886057644
NM_000487.5(ARSA):c.*1746G>A rs73172277
NM_000487.5(ARSA):c.*1769A>G rs56788262
NM_000487.5(ARSA):c.*191C>G rs537362532
NM_000487.5(ARSA):c.*1987G>A rs886057643
NM_000487.5(ARSA):c.*2023G>C rs886057642
NM_000487.5(ARSA):c.*2091_*2093delCCT rs886057641
NM_000487.5(ARSA):c.*2205A>T rs886057640
NM_000487.5(ARSA):c.*2259G>A rs187444411
NM_000487.5(ARSA):c.*2301T>C rs534387866
NM_000487.5(ARSA):c.*2316C>T rs117951552
NM_000487.5(ARSA):c.*2374C>A rs11704557
NM_000487.5(ARSA):c.*293C>T rs886057654
NM_000487.5(ARSA):c.*332C>T rs780413907
NM_000487.5(ARSA):c.*340T>A rs5741862
NM_000487.5(ARSA):c.*342A>G rs182635438
NM_000487.5(ARSA):c.*503A>G rs141494339
NM_000487.5(ARSA):c.*625G>A rs778826401
NM_000487.5(ARSA):c.*635G>A rs5770953
NM_000487.5(ARSA):c.*643T>C rs886057653
NM_000487.5(ARSA):c.*682G>C rs7288338
NM_000487.5(ARSA):c.*729C>T rs191335867
NM_000487.5(ARSA):c.*741C>T rs8142033
NM_000487.5(ARSA):c.*777C>G rs115593886
NM_000487.5(ARSA):c.*794C>T rs886057652
NM_000487.5(ARSA):c.*855G>A rs7288050
NM_000487.5(ARSA):c.*874T>C rs886057651
NM_000487.5(ARSA):c.*919A>G rs5770805
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000487.5(ARSA):c.-131G>A rs551316995
NM_000487.5(ARSA):c.-136C>G rs6151408
NM_000487.5(ARSA):c.-142G>A rs886057660
NM_000487.5(ARSA):c.-159C>T rs6151407
NM_000487.5(ARSA):c.-15A>G rs909454884
NM_000487.5(ARSA):c.-20G>C rs886057659
NM_000487.5(ARSA):c.-224C>G rs546035074
NM_000487.5(ARSA):c.-330C>T rs558023516
NM_000487.5(ARSA):c.-345G>C rs6151406
NM_000487.5(ARSA):c.-355G>T rs886057661
NM_000487.5(ARSA):c.-35_-8del28 rs759081183
NM_000487.5(ARSA):c.-362G>C rs886057662
NM_000487.5(ARSA):c.-88G>A rs562486733
NM_000487.5(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.5(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.5(ARSA):c.1036delG (p.Ala346Leufs) rs1555900463
NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.5(ARSA):c.109_116del8 (p.Asp37Leufs) rs753415648
NM_000487.5(ARSA):c.109_126dup (p.Gly42_His43insAspLeuGlyCysTyrGly) rs1555901139
NM_000487.5(ARSA):c.1107+1delG rs1057517036
NM_000487.5(ARSA):c.1108-2A>G rs398123411
NM_000487.5(ARSA):c.1108-3C>G rs1001100248
NM_000487.5(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.5(ARSA):c.1115G>A (p.Arg372Gln) rs74315477
NM_000487.5(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.5(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.5(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.5(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.5(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.5(ARSA):c.1195C>T (p.His399Tyr) rs199476376
NM_000487.5(ARSA):c.1201_1203delTTC (p.Phe401del)
NM_000487.5(ARSA):c.1210+1G>A rs80338820
NM_000487.5(ARSA):c.1210+1G>T rs80338820
NM_000487.5(ARSA):c.1211-15T>C rs374150980
NM_000487.5(ARSA):c.1222_1232del11 (p.Ser408Cysfs) rs1555900191
NM_000487.5(ARSA):c.1223_1231del9 (p.Ser408_Thr410del) rs765905826
NM_000487.5(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.5(ARSA):c.1258A>C (p.Ser420Arg) rs139073195
NM_000487.5(ARSA):c.1264delC (p.Leu422Terfs) rs755635209
NM_000487.5(ARSA):c.1274A>G (p.His425Arg) rs1135401757
NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.5(ARSA):c.1323delC (p.Tyr441Terfs) rs1555900150
NM_000487.5(ARSA):c.1334G>T (p.Gly445Val) rs540762357
NM_000487.5(ARSA):c.1337delG (p.Gly446Valfs) rs750030142
NM_000487.5(ARSA):c.1344dup (p.Gly449Argfs) rs761555167
NM_000487.5(ARSA):c.135C>A (p.Ser45Arg) rs375493957
NM_000487.5(ARSA):c.1388delT (p.Leu463Argfs) rs1057517237
NM_000487.5(ARSA):c.1408_1418del11 (p.Ala470Leufs) rs80338823
NM_000487.5(ARSA):c.1447G>A (p.Glu483Lys) rs148352371
NM_000487.5(ARSA):c.1471T>G (p.Cys491Gly) rs199476388
NM_000487.5(ARSA):c.1472G>A (p.Cys491Tyr) rs1060499585
NM_000487.5(ARSA):c.1489_1492dupCCCC (p.Arg498Profs) rs774153480
NM_000487.5(ARSA):c.1490_1492delCCC (p.Pro497del) rs774153480
NM_000487.5(ARSA):c.1492dupC (p.Arg498Profs) rs774153480
NM_000487.5(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.5(ARSA):c.185_186dup (p.Asp63Glnfs) rs1227301119
NM_000487.5(ARSA):c.195delC (p.Tyr65Terfs) rs398123414
NM_000487.5(ARSA):c.206_209delCTCT (p.Ser69Cysfs) rs1555901112
NM_000487.5(ARSA):c.211_212delTG (p.Cys71Hisfs) rs1057516288
NM_000487.5(ARSA):c.224+1G>A rs1555901108
NM_000487.5(ARSA):c.224+8G>A rs775536824
NM_000487.5(ARSA):c.225-2A>G rs1555901083
NM_000487.5(ARSA):c.225-5C>T rs192013394
NM_000487.5(ARSA):c.227_228insTA (p.Ala77Thrfs) rs1057516595
NM_000487.5(ARSA):c.229G>C (p.Ala77Pro) rs763880042
NM_000487.5(ARSA):c.240dupC (p.Gly81Argfs) rs786204599
NM_000487.5(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.5(ARSA):c.251C>T (p.Pro84Leu) rs6151411
NM_000487.5(ARSA):c.256C>T (p.Arg86Trp) rs199476352
NM_000487.5(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.5(ARSA):c.257G>T (p.Arg86Leu) rs74315458
NM_000487.5(ARSA):c.25C>T (p.Leu9Phe) rs886057658
NM_000487.5(ARSA):c.293C>T (p.Ser98Phe) rs74315456
NM_000487.5(ARSA):c.295dup (p.Arg99Profs) rs1555901056
NM_000487.5(ARSA):c.2T>C (p.Met1Thr) rs1555901170
NM_000487.5(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.5(ARSA):c.304delC (p.Leu102Cysfs) rs786204673
NM_000487.5(ARSA):c.369C>T (p.Ala123=) rs886057657
NM_000487.5(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.5(ARSA):c.398_409del12 (p.Glu133_Leu137delinsVal) rs1555901024
NM_000487.5(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.5(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.5(ARSA):c.418delC (p.His140Ilefs) rs745884435
NM_000487.5(ARSA):c.418dupC (p.His140Profs) rs745884435
NM_000487.5(ARSA):c.421C>T (p.Gln141Ter) rs1057516730
NM_000487.5(ARSA):c.449C>G (p.Pro150Arg)
NM_000487.5(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.5(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.5(ARSA):c.465+1G>A rs80338815
NM_000487.5(ARSA):c.465+2T>A rs1555900989
NM_000487.5(ARSA):c.466-2A>G rs1057517044
NM_000487.5(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.5(ARSA):c.470C>T (p.Pro157Leu) rs74315464
NM_000487.5(ARSA):c.494dupC (p.Pro166Alafs) rs1057517346
NM_000487.5(ARSA):c.495_501del7 (p.Pro166Leufs) rs1057517429
NM_000487.5(ARSA):c.506C>G (p.Pro169Arg) rs74315465
NM_000487.5(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.5(ARSA):c.514G>A (p.Gly172Ser) rs74315271
NM_000487.5(ARSA):c.526C>T (p.Gln176Ter) rs762284875
NM_000487.5(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.5(ARSA):c.542dup (p.Leu183Thrfs) rs776748338
NM_000487.5(ARSA):c.545C>G (p.Pro182Arg) rs1135401755
NM_000487.5(ARSA):c.545delC (p.Pro182Hisfs) rs1057516907
NM_000487.5(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_000487.5(ARSA):c.598G>A (p.Glu200Lys) rs776156197
NM_000487.5(ARSA):c.604C>T (p.Arg202Cys) rs374482942
NM_000487.5(ARSA):c.608A>G (p.Tyr203Cys) rs199476345
NM_000487.5(ARSA):c.610A>G (p.Met204Val)
NM_000487.5(ARSA):c.622delC (p.His208Metfs) rs1555900900
NM_000487.5(ARSA):c.624T>C (p.His208=) rs113990230
NM_000487.5(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.5(ARSA):c.659C>T (p.Pro220Leu) rs201251634
NM_000487.5(ARSA):c.663C>T (p.Phe221=) rs754484249
NM_000487.5(ARSA):c.674A>G (p.Tyr225Cys) rs527640350
NM_000487.5(ARSA):c.674_675dupAT (p.Ala226Metfs) rs1057516373
NM_000487.5(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.5(ARSA):c.679T>C (p.Ser227Pro) rs1555900849
NM_000487.5(ARSA):c.684+2dup rs1555900843
NM_000487.5(ARSA):c.697C>A (p.Pro233Thr) rs74315469
NM_000487.5(ARSA):c.736C>T (p.Arg246Cys) rs74315470
NM_000487.5(ARSA):c.737G>A (p.Arg246His) rs199476366
NM_000487.5(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.5(ARSA):c.746T>C (p.Phe249Ser) rs199476384
NM_000487.5(ARSA):c.758dup (p.Met254Aspfs) rs74315270
NM_000487.5(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.5(ARSA):c.769G>C (p.Asp257His) rs80338819
NM_000487.5(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.5(ARSA):c.847G>T (p.Asp283Tyr) rs199476386
NM_000487.5(ARSA):c.852T>A (p.Asn284Lys) rs1135401756
NM_000487.5(ARSA):c.867G>A (p.Met289Ile)
NM_000487.5(ARSA):c.868C>T (p.Arg290Cys) rs74315473
NM_000487.5(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000487.5(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.5(ARSA):c.883G>A (p.Gly295Ser) rs199476349
NM_000487.5(ARSA):c.891delC (p.Gly298Valfs) rs1057517073
NM_000487.5(ARSA):c.901C>G (p.Arg301Gly) rs794727704
NM_000487.5(ARSA):c.902G>A (p.Arg301Gln)
NM_000487.5(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.5(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.5(ARSA):c.925dup (p.Glu309Glyfs) rs1555900623
NM_000487.5(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.5(ARSA):c.929delG (p.Gly310Alafs) rs1057516638
NM_000487.5(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000487.5(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.5(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.5(ARSA):c.960G>A (p.Trp320Ter) rs1375757476
NM_000487.5(ARSA):c.979+1G>A rs754722529
NM_000487.5(ARSA):c.979_979+3delGGTC rs1057516887
NM_000487.5(ARSA):c.980-2A>C rs769152137
NM_000487.5(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.5(ARSA):c.98T>C (p.Leu33Pro) rs1135401754
NM_000487.5(ARSA):c.991G>A (p.Glu331Lys) rs398123419
NM_000487.5(ARSA):c.991G>T (p.Glu331Ter) rs398123419
NM_000487.5:c.244delC
NM_000487.6(ARSA):c.369_374delCGGCAAinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_001042465.2(PSAP):c.*574G>C rs549402343
NM_001042465.2(PSAP):c.-118G>A rs28365838
NM_001085427.2(ARSA):c.245G>A (p.Arg82Gln) rs769892461
NM_001085428.2(ARSA):c.632C>A (p.Ser211Tyr) rs74315474
NM_002778.3(PSAP):c.*113C>T rs544214520
NM_002778.3(PSAP):c.*122C>G rs113284884
NM_002778.3(PSAP):c.*276G>A rs547409137
NM_002778.3(PSAP):c.*73C>T rs541692197
NM_002778.3(PSAP):c.*775G>A rs79662404
NM_002778.3(PSAP):c.*859C>T rs886047149
NM_002778.3(PSAP):c.*891G>A rs7869
NM_002778.3(PSAP):c.*935A>G rs886047148
NM_002778.3(PSAP):c.*9A>G rs376628499
NM_002778.3(PSAP):c.-10A>G rs76455588
NM_002778.3(PSAP):c.-22G>C rs569841336
NM_002778.3(PSAP):c.-28A>C rs375720661
NM_002778.3(PSAP):c.-29C>T rs201780377
NM_002778.3(PSAP):c.-33T>C rs143987544
NM_002778.3(PSAP):c.-4C>T rs2070188
NM_002778.3(PSAP):c.-50G>T rs886047154
NM_002778.3(PSAP):c.-56A>G rs534586960
NM_002778.3(PSAP):c.-62A>G rs886047155
NM_002778.3(PSAP):c.-65C>T rs145948209
NM_002778.3(PSAP):c.-99T>G rs886047156
NM_002778.3(PSAP):c.1000A>T (p.Thr334Ser) rs749663645
NM_002778.3(PSAP):c.1012A>G (p.Ile338Val) rs544300820
NM_002778.3(PSAP):c.1056C>T (p.Ser352=) rs138328594
NM_002778.3(PSAP):c.1088C>T (p.Thr363Met) rs140066253
NM_002778.3(PSAP):c.112A>T (p.Thr38Ser) rs535525554
NM_002778.3(PSAP):c.1172C>T (p.Thr391Met) rs202125074
NM_002778.3(PSAP):c.1258G>A (p.Asp420Asn) rs760621775
NM_002778.3(PSAP):c.1261C>T (p.Arg421Cys) rs529719024
NM_002778.3(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.3(PSAP):c.1350+5G>A rs11000016
NM_002778.3(PSAP):c.1351-14A>G rs4747203
NM_002778.3(PSAP):c.1380C>T (p.Pro460=) rs1049882
NM_002778.3(PSAP):c.1432-4A>G rs775086571
NM_002778.3(PSAP):c.1452G>A (p.Ser484=) rs114389264
NM_002778.3(PSAP):c.1456C>T (p.His486Tyr) rs749660716
NM_002778.3(PSAP):c.1476T>C (p.Thr492=) rs139178900
NM_002778.3(PSAP):c.167C>G (p.Pro56Arg) rs571773332
NM_002778.3(PSAP):c.174+9C>T rs141133813
NM_002778.3(PSAP):c.189C>T (p.Cys63=) rs111369573
NM_002778.3(PSAP):c.204C>T (p.Asp68=) rs143981174
NM_002778.3(PSAP):c.227T>A (p.Met76Lys) rs377024801
NM_002778.3(PSAP):c.250-12G>A rs886047152
NM_002778.3(PSAP):c.336C>T (p.Ser112=) rs370977178
NM_002778.3(PSAP):c.380G>A (p.Arg127His) rs886047151
NM_002778.3(PSAP):c.40+12G>A rs886047153
NM_002778.3(PSAP):c.41-13G>C rs138010978
NM_002778.3(PSAP):c.557G>A (p.Arg186His) rs138880818
NM_002778.3(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_002778.3(PSAP):c.577-10T>C rs185892516
NM_002778.3(PSAP):c.714C>G (p.Ala238=) rs141199649
NM_002778.3(PSAP):c.78C>T (p.Thr26=) rs74145688
NM_002778.3(PSAP):c.798G>A (p.Ala266=) rs199672678
NM_002778.3(PSAP):c.88G>T (p.Ala30Ser) rs144942998
NM_002778.3(PSAP):c.911A>G (p.Lys304Arg) rs757553906
NM_002778.3(PSAP):c.923C>T (p.Pro308Leu) rs886047150
NM_002778.3(PSAP):c.94T>G (p.Trp32Gly) rs200008050
NM_022124.5(CDH23):c.*104G>C rs377312107
NM_022124.5(CDH23):c.*141G>A rs535544696
NM_022124.5(CDH23):c.*204A>G rs2290022
NM_022124.5(CDH23):c.*349A>G rs1867978
NM_022124.5(CDH23):c.*361C>A rs115033851
NM_022124.5(CDH23):c.*430A>T rs562268606
NM_022124.5(CDH23):c.*434G>A rs529522213
NM_022124.5(CDH23):c.*510G>A rs1054635
NM_022124.5(CDH23):c.*515C>A rs16929375
NM_022124.5(CDH23):c.*588delA rs148667421
NM_022124.5(CDH23):c.*68G>C rs527311705
NM_022124.5(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.5(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.5(CDH23):c.9319+11G>A rs11000013
NM_022124.5(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.5(CDH23):c.9501G>A (p.Thr3167=) rs144906721
NM_022124.5(CDH23):c.9510+13C>T rs183692794
NM_022124.5(CDH23):c.9510+16_9510+22delTCAGGCA rs149704197
NM_022124.5(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.5(CDH23):c.9739-12G>A rs200638595
NM_022124.5(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.5(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.5(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.5(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.5(CDH23):c.9903C>T (p.Pro3301=) rs55717455
NM_022124.5(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_022124.5(CDH23):c.9978C>T (p.Asn3326=) rs73277900
NM_022124.5(CDH23):c.9983G>A (p.Arg3328His) rs148475933

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