ClinVar Miner

List of variants in gene ARSA studied for not provided

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Gene type:
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Total variants: 150
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HGVS dbSNP
NC_000022.11:g.50628493G>A rs131715
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.100G>A (p.Gly34Ser) rs199476350
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) rs199476369
NM_000487.6(ARSA):c.1108-2A>G rs398123411
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.1132T>A (p.Tyr378Asn) rs199476344
NM_000487.6(ARSA):c.1149C>G (p.Asp383Glu) rs6151425
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.6(ARSA):c.1155C>T (p.Val385=) rs149088203
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.1210+20C>G rs762674
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.1222A>G (p.Ser408Gly) rs199476361
NM_000487.6(ARSA):c.1260C>T (p.Ser420=) rs1603444868
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) rs755635209
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) rs199476380
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
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.1447G>A (p.Glu483Lys) rs148352371
NM_000487.6(ARSA):c.1471T>C (p.Cys491Arg) rs199476388
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.6(ARSA):c.161T>C (p.Leu54Pro) rs199476357
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro) rs199476351
NM_000487.6(ARSA):c.222T>C (p.Ser74=) rs760597265
NM_000487.6(ARSA):c.225-5C>G rs192013394
NM_000487.6(ARSA):c.233T>C (p.Leu78Pro) rs199476362
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.6(ARSA):c.273T>G (p.Pro91=) rs758790900
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904
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.293_294insT (p.Arg99fs) rs1603445003
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.325G>A (p.Val109Met) rs746259972
NM_000487.6(ARSA):c.329C>T (p.Ala110Val) rs1191014984
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059
NM_000487.6(ARSA):c.34del (p.Ala12fs) rs398123415
NM_000487.6(ARSA):c.361G>A (p.Gly121Arg) rs199476364
NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.6(ARSA):c.378G>A (p.Trp126Ter)
NM_000487.6(ARSA):c.40G>A (p.Ala14Thr)
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser) rs60504011
NM_000487.6(ARSA):c.413C>G (p.Pro138Arg)
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.459C>T (p.His153=) rs6151412
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr) rs199476365
NM_000487.6(ARSA):c.465+1G>A rs80338815
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.466-7G>C rs6151414
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464
NM_000487.6(ARSA):c.472T>C (p.Cys158Arg) rs199476348
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181
NM_000487.6(ARSA):c.495G>A (p.Pro165=)
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.542T>G (p.Ile181Ser) rs74315457
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.577C>A (p.Pro193Thr) rs199476374
NM_000487.6(ARSA):c.583del (p.Trp195fs) rs398123416
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_000487.6(ARSA):c.591C>T (p.Pro197=) rs34457249
NM_000487.6(ARSA):c.59C>A (p.Ala20Asp) rs199476339
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) rs199476345
NM_000487.6(ARSA):c.618C>T (p.Phe206=) rs370296376
NM_000487.6(ARSA):c.632T>C (p.Met211Thr)
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr) rs199476341
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.656G>A (p.Arg219His) rs148403406
NM_000487.6(ARSA):c.661T>G (p.Phe221Val) rs199476383
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.6(ARSA):c.684+1G>A
NM_000487.6(ARSA):c.685-7C>A rs398123417
NM_000487.6(ARSA):c.685C>T (p.His229Tyr) rs199476354
NM_000487.6(ARSA):c.696C>T (p.Tyr232=) rs1603444965
NM_000487.6(ARSA):c.6C>T (p.Ser2=) rs1373055038
NM_000487.6(ARSA):c.720T>C (p.Phe240=) rs1603444964
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384
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.769G>C (p.Asp257His) rs80338819
NM_000487.6(ARSA):c.799A>G (p.Ile267Val)
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386
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.869G>A (p.Arg290His) rs199476355
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr) rs199476347
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.912G>C (p.Lys304Asn) rs199476343
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328
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.925G>A (p.Glu309Lys) rs199476360
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.930C>T (p.Gly310=) rs767751622
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.938G>A (p.Arg313Gln) rs199476382
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.979G>A (p.Gly327Ser) rs148092995
NM_000487.6(ARSA):c.980-10C>T rs1486892120
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.990C>T (p.His330=) rs768366772
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419

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