ClinVar Miner

List of variants in gene ARSA studied for not provided

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Gene type:
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Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1210+20C>G rs762674 0.76867
NM_000487.6(ARSA):c.1108-32C>T rs762673 0.74934
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000487.5(ARSA):c.-714C>T rs131715 0.33343
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000487.6(ARSA):c.854+104C>T rs6151419 0.16925
NM_000487.6(ARSA):c.854+121C>T rs1106788 0.09187
NM_000487.6(ARSA):c.854+156dup rs6151420 0.06499
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412 0.05937
NM_000487.6(ARSA):c.1108-60C>T rs873697 0.05763
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NC_000022.11:g.50628271T>C rs6151405 0.05114
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_000487.6(ARSA):c.684+33C>T rs6151416 0.04666
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_000487.6(ARSA):c.1107+125C>T rs6151423 0.03696
NM_000487.6(ARSA):c.979+38A>G rs6151421 0.02982
NM_000487.6(ARSA):c.854+100G>A rs6151418 0.02458
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230 0.01000
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_000487.6(ARSA):c.1210+48C>T rs187599274 0.00240
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser) rs6151427 0.00096
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile) rs201085386 0.00042
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000487.6(ARSA):c.*15G>A rs377187248 0.00031
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983 0.00021
NM_000487.6(ARSA):c.656G>A (p.Arg219His) rs148403406 0.00021
NM_000487.6(ARSA):c.605G>A (p.Arg202His) rs201794808 0.00019
NM_000487.6(ARSA):c.14C>T (p.Ala5Val) rs201315540 0.00018
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000487.6(ARSA):c.637G>A (p.Asp213Asn) rs369786038 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328 0.00006
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972 0.00004
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181 0.00004
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360 0.00004
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) rs755635209 0.00003
NM_000487.6(ARSA):c.1442G>A (p.Arg481Gln) rs776116011 0.00003
NM_000487.6(ARSA):c.229G>T (p.Ala77Ser) rs763880042 0.00003
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00003
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) rs199476380 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys) rs374482942 0.00002
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622 0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000487.6(ARSA):c.1137G>A (p.Pro379=) rs372869650 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957 0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388 0.00001
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp) rs867538940 0.00001
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414 0.00001
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp) rs1313802305 0.00001
NM_000487.6(ARSA):c.248T>C (p.Leu83Pro) rs1190061000 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro) rs777431148 0.00001
NM_000487.6(ARSA):c.350G>A (p.Gly117Asp) rs1433109241 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131 0.00001
NM_000487.6(ARSA):c.577C>A (p.Pro193Thr) rs199476374 0.00001
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) rs199476345 0.00001
NM_000487.6(ARSA):c.610A>G (p.Met204Val) rs1569080377 0.00001
NM_000487.6(ARSA):c.618C>T (p.Phe206=) rs370296376 0.00001
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr) rs199476341 0.00001
NM_000487.6(ARSA):c.684+1G>A rs146371968 0.00001
NM_000487.6(ARSA):c.685C>T (p.His229Tyr) rs199476354 0.00001
NM_000487.6(ARSA):c.720T>C (p.Phe240=) rs1603444964 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000487.6(ARSA):c.799A>G (p.Ile267Val) rs769099985 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr) rs199476347 0.00001
NM_000487.6(ARSA):c.912G>C (p.Lys304Asn) rs199476343 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000487.6(ARSA):c.*210A>G rs2146714509
NM_000487.6(ARSA):c.100G>A (p.Gly34Ser) rs199476350
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro) rs2082658031
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) rs199476369
NM_000487.6(ARSA):c.1108-2A>G rs398123411
NM_000487.6(ARSA):c.1108-44G>A rs950328682
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1115G>C (p.Arg372Pro) rs74315477
NM_000487.6(ARSA):c.1125_1126del (p.Phe376fs) rs398123412
NM_000487.6(ARSA):c.1129_1136dup (p.Tyr381fs) rs2146717919
NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn) rs199476344
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu) rs74315478
NM_000487.6(ARSA):c.1149C>G (p.Asp383Glu) rs6151425
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000487.6(ARSA):c.1210+13C>A rs6151426
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.1222A>G (p.Ser408Gly) rs199476361
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
NM_000487.6(ARSA):c.1348G>A (p.Ala450Thr) rs2146716261
NM_000487.6(ARSA):c.1397C>T (p.Ala466Val) rs763065602
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) rs80338823
NM_000487.6(ARSA):c.1412C>G (p.Ala471Gly) rs199476385
NM_000487.6(ARSA):c.1471T>C (p.Cys491Arg) rs199476388
NM_000487.6(ARSA):c.1486A>C (p.Thr496Pro) rs1196939207
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000487.6(ARSA):c.161T>C (p.Leu54Pro) rs199476357
NM_000487.6(ARSA):c.179G>C (p.Arg60Pro) rs750005732
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro) rs199476351
NM_000487.6(ARSA):c.225-5C>G rs192013394
NM_000487.6(ARSA):c.233T>C (p.Leu78Pro) rs199476362
NM_000487.6(ARSA):c.286C>G (p.Pro96Ala) rs199476353
NM_000487.6(ARSA):c.290G>A (p.Ser97Asn) rs199476363
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu) rs199476371
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.302del (p.Gly101fs) rs761606317
NM_000487.6(ARSA):c.329C>T (p.Ala110Val) rs1191014984
NM_000487.6(ARSA):c.34del (p.Ala12fs) rs398123415
NM_000487.6(ARSA):c.361G>A (p.Gly121Arg) rs199476364
NM_000487.6(ARSA):c.365T>C (p.Met122Thr) rs2146725874
NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_000487.6(ARSA):c.378G>A (p.Trp126Ter) rs2082689270
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser) rs60504011
NM_000487.6(ARSA):c.413C>G (p.Pro138Arg) rs74315462
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) rs199476373
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr) rs199476365
NM_000487.6(ARSA):c.465G>A (p.Gln155=) rs199476377
NM_000487.6(ARSA):c.465G>C (p.Gln155His) rs199476377
NM_000487.6(ARSA):c.472T>C (p.Cys158Arg) rs199476348
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.521G>A (p.Cys174Tyr) rs199476381
NM_000487.6(ARSA):c.548T>A (p.Leu183Gln) rs199476378
NM_000487.6(ARSA):c.576G>C (p.Gln192His) rs199476372
NM_000487.6(ARSA):c.583del (p.Trp195fs) rs398123416
NM_000487.6(ARSA):c.59C>A (p.Ala20Asp) rs199476339
NM_000487.6(ARSA):c.632T>C (p.Met211Thr) rs2082679417
NM_000487.6(ARSA):c.633G>A (p.Met211Ile) rs773059458
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.661T>G (p.Phe221Val) rs199476383
NM_000487.6(ARSA):c.685-2A>G rs1490196552
NM_000487.6(ARSA):c.685-3del
NM_000487.6(ARSA):c.685-7C>A rs398123417
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr) rs199476367
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser) rs199476342
NM_000487.6(ARSA):c.854+1G>T rs886041911
NM_000487.6(ARSA):c.854+3A>G rs1057524566
NM_000487.6(ARSA):c.854+5G>T rs886043370
NM_000487.6(ARSA):c.854+82G>A
NM_000487.6(ARSA):c.855-112A>G rs762672
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) rs199476389
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly) rs794727704
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe) rs74315484
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.91G>A (p.Asp31Asn) rs199476346
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.926A>T (p.Glu309Val) rs1085308016
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.929G>T (p.Gly310Val) rs199476356
NM_000487.6(ARSA):c.932G>A (p.Gly311Asp) rs886042812
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.94G>C (p.Asp32His) rs199476340
NM_000487.6(ARSA):c.979+13G>T rs753874308
NM_000487.6(ARSA):c.979+1G>A rs754722529
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419

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