ClinVar Miner

List of variants in gene ARSA reported as uncertain significance for Metachromatic leukodystrophy

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Gene type:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_000487.6(ARSA):c.*2259G>A rs187444411 0.00289
NM_000487.6(ARSA):c.*191C>G rs537362532 0.00283
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634 0.00261
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_000487.6(ARSA):c.-224C>G rs546035074 0.00197
NM_000487.6(ARSA):c.*332C>T rs780413907 0.00115
NM_000487.6(ARSA):c.*729C>T rs191335867 0.00099
NM_000487.6(ARSA):c.*1213T>G rs886057649 0.00074
NM_000487.6(ARSA):c.-131G>A rs551316995 0.00061
NM_000487.6(ARSA):c.*103C>T rs146160737 0.00060
NM_000487.6(ARSA):c.*1969C>A rs556167510 0.00055
NM_000487.6(ARSA):c.-159C>T rs6151407 0.00051
NM_000487.6(ARSA):c.*1212T>G rs868201030 0.00047
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile) rs201085386 0.00042
NM_000487.6(ARSA):c.*2316C>T rs117951552 0.00039
NM_000487.6(ARSA):c.*2037C>T rs568146327 0.00034
NM_000487.6(ARSA):c.*15G>A rs377187248 0.00031
NM_000487.6(ARSA):c.-142G>A rs886057660 0.00029
NM_000487.6(ARSA):c.*2301T>C rs534387866 0.00026
NM_000487.6(ARSA):c.*1207T>G rs985590155 0.00024
NM_000487.6(ARSA):c.*342A>G rs182635438 0.00023
NM_000487.6(ARSA):c.*2368A>T rs570115432 0.00022
NM_000487.6(ARSA):c.*527A>G rs898694289 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.680C>G (p.Ser227Cys) rs138468395 0.00019
NM_000487.6(ARSA):c.14C>T (p.Ala5Val) rs201315540 0.00018
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg) rs139073195 0.00013
NM_000487.6(ARSA):c.*625G>A rs778826401 0.00012
NM_000487.6(ARSA):c.*1171A>G rs918518184 0.00011
NM_000487.6(ARSA):c.-88G>A rs562486733 0.00011
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
NM_000487.6(ARSA):c.*794C>T rs886057652 0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000487.6(ARSA):c.*1987G>A rs886057643 0.00009
NM_000487.6(ARSA):c.728G>A (p.Arg243His) rs142142638 0.00008
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_000487.6(ARSA):c.225-5C>T rs192013394 0.00006
NM_000487.6(ARSA):c.637G>A (p.Asp213Asn) rs369786038 0.00006
NM_000487.6(ARSA):c.825G>T (p.Glu275Asp) rs907795869 0.00006
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328 0.00006
NM_000487.6(ARSA):c.*380G>A rs1249327412 0.00004
NM_000487.6(ARSA):c.-223G>T rs752129372 0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972 0.00004
NM_000487.6(ARSA):c.492C>G (p.Phe164Leu) rs745605987 0.00004
NM_000487.6(ARSA):c.601G>T (p.Ala201Ser) rs377625311 0.00004
NM_000487.6(ARSA):c.*293C>T rs886057654 0.00003
NM_000487.6(ARSA):c.*479C>G rs565093599 0.00003
NM_000487.6(ARSA):c.1107+9G>A rs768146306 0.00003
NM_000487.6(ARSA):c.1157G>A (p.Arg386His) rs747155690 0.00003
NM_000487.6(ARSA):c.13G>A (p.Ala5Thr) rs765893073 0.00003
NM_000487.6(ARSA):c.1441C>T (p.Arg481Trp) rs747443475 0.00003
NM_000487.6(ARSA):c.1442G>A (p.Arg481Gln) rs776116011 0.00003
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser) rs377717242 0.00003
NM_000487.6(ARSA):c.225-4G>A rs372937480 0.00003
NM_000487.6(ARSA):c.229G>T (p.Ala77Ser) rs763880042 0.00003
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657 0.00003
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00003
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser) rs74315271 0.00003
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln) rs573456864 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000487.6(ARSA):c.*1714G>A rs183937648 0.00002
NM_000487.6(ARSA):c.*466C>T rs1181265537 0.00002
NM_000487.6(ARSA):c.1450G>C (p.Asp484His) rs749061034 0.00002
NM_000487.6(ARSA):c.1489C>T (p.Pro497Ser) rs1250959266 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.343G>A (p.Ala115Thr) rs1421381874 0.00002
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422 0.00002
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg) rs144393886 0.00002
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys) rs374482942 0.00002
NM_000487.6(ARSA):c.629T>A (p.Leu210His) rs762593908 0.00002
NM_000487.6(ARSA):c.684C>T (p.His228=) rs762695598 0.00002
NM_000487.6(ARSA):c.73A>G (p.Ile25Val) rs549154390 0.00002
NM_000487.6(ARSA):c.855-3C>T rs1338786023 0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419 0.00002
NM_000487.6(ARSA):c.*10G>A rs772710219 0.00001
NM_000487.6(ARSA):c.*1476G>A rs8142531 0.00001
NM_000487.6(ARSA):c.*1629A>C rs886057644 0.00001
NM_000487.6(ARSA):c.*1712C>T rs1330240384 0.00001
NM_000487.6(ARSA):c.1063T>G (p.Leu355Val) rs763446964 0.00001
NM_000487.6(ARSA):c.1106A>C (p.Lys369Thr) rs200901626 0.00001
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376 0.00001
NM_000487.6(ARSA):c.1211-15T>C rs374150980 0.00001
NM_000487.6(ARSA):c.1211-5C>G rs778131215 0.00001
NM_000487.6(ARSA):c.1277A>G (p.Glu426Gly) rs376220189 0.00001
NM_000487.6(ARSA):c.131C>T (p.Pro44Leu) rs1340814173 0.00001
NM_000487.6(ARSA):c.1321T>G (p.Tyr441Asp) rs2082645489 0.00001
NM_000487.6(ARSA):c.134G>C (p.Ser45Thr) rs867624246 0.00001
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957 0.00001
NM_000487.6(ARSA):c.1378C>G (p.Gln460Glu) rs973061258 0.00001
NM_000487.6(ARSA):c.1415T>C (p.Val472Ala) rs978574508 0.00001
NM_000487.6(ARSA):c.1423G>A (p.Gly475Ser) rs1017776709 0.00001
NM_000487.6(ARSA):c.1445G>A (p.Gly482Asp) rs745438306 0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388 0.00001
NM_000487.6(ARSA):c.1522C>T (p.His508Tyr) rs1278738755 0.00001
NM_000487.6(ARSA):c.242G>C (p.Gly81Ala) rs1389990700 0.00001
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe) rs886057658 0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904 0.00001
NM_000487.6(ARSA):c.350G>A (p.Gly117Asp) rs1433109241 0.00001
NM_000487.6(ARSA):c.499G>T (p.Ala167Ser) rs578188411 0.00001
NM_000487.6(ARSA):c.56T>C (p.Val19Ala) rs1235007867 0.00001
NM_000487.6(ARSA):c.610A>G (p.Met204Val) rs1569080377 0.00001
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249 0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350 0.00001
NM_000487.6(ARSA):c.684+7G>A rs1161167884 0.00001
NM_000487.6(ARSA):c.727C>T (p.Arg243Cys) rs369593442 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 0.00001
NM_000487.6(ARSA):c.867G>A (p.Met289Ile) rs761919002 0.00001
NM_000487.6(ARSA):c.878G>A (p.Arg293Gln) rs373866455 0.00001
NM_000487.6(ARSA):c.891C>T (p.Ser297=) rs770536697 0.00001
NM_000487.6(ARSA):c.970A>G (p.Ile324Val) rs557527090 0.00001
NM_000487.6(ARSA):c.971T>C (p.Ile324Thr) rs1338627220 0.00001
NM_000487.6(ARSA):c.979+8C>T rs746862304 0.00001
NM_000487.6(ARSA):c.*1012C>T rs886057650
NM_000487.6(ARSA):c.*1049T>A rs868511268
NM_000487.6(ARSA):c.*1062dup rs763817529
NM_000487.6(ARSA):c.*1073G>T rs185955658
NM_000487.6(ARSA):c.*1157G>T rs775298785
NM_000487.6(ARSA):c.*1206G>T rs867069706
NM_000487.6(ARSA):c.*1238T>G rs6010033
NM_000487.6(ARSA):c.*125C>G rs886057656
NM_000487.6(ARSA):c.*1267C>T rs886057648
NM_000487.6(ARSA):c.*127A>T rs977218325
NM_000487.6(ARSA):c.*130C>A rs886057655
NM_000487.6(ARSA):c.*1372G>A rs190478606
NM_000487.6(ARSA):c.*1372G>T rs190478606
NM_000487.6(ARSA):c.*1404dup rs746677403
NM_000487.6(ARSA):c.*1475C>G rs184515588
NM_000487.6(ARSA):c.*1477C>T rs2082619608
NM_000487.6(ARSA):c.*1576A>C rs886057647
NM_000487.6(ARSA):c.*1617G>A rs886057646
NM_000487.6(ARSA):c.*1627G>C rs886057645
NM_000487.6(ARSA):c.*165G>A rs144366706
NM_000487.6(ARSA):c.*1825C>T rs2082615571
NM_000487.6(ARSA):c.*2023G>C rs886057642
NM_000487.6(ARSA):c.*2065C>T rs776085194
NM_000487.6(ARSA):c.*2088CCT[1] rs886057641
NM_000487.6(ARSA):c.*2134C>A rs911625206
NM_000487.6(ARSA):c.*2205A>T rs886057640
NM_000487.6(ARSA):c.*2283A>G rs2082610056
NM_000487.6(ARSA):c.*389A>G rs547501508
NM_000487.6(ARSA):c.*413T>G rs986551305
NM_000487.6(ARSA):c.*624G>T rs2082632282
NM_000487.6(ARSA):c.*643T>C rs886057653
NM_000487.6(ARSA):c.*73G>A rs2146715022
NM_000487.6(ARSA):c.*874T>C rs886057651
NM_000487.6(ARSA):c.-15A>G rs909454884
NM_000487.6(ARSA):c.-16C>G rs2082703346
NM_000487.6(ARSA):c.-20G>C rs886057659
NM_000487.6(ARSA):c.-35_-8del rs759081183
NM_000487.6(ARSA):c.1012C>G (p.Leu338Val) rs2146719624
NM_000487.6(ARSA):c.1030G>C (p.Ala344Pro)
NM_000487.6(ARSA):c.104A>G (p.Tyr35Cys) rs74315268
NM_000487.6(ARSA):c.104A>T (p.Tyr35Phe)
NM_000487.6(ARSA):c.1052C>T (p.Pro351Leu)
NM_000487.6(ARSA):c.1059C>T (p.Val353=)
NM_000487.6(ARSA):c.107G>A (p.Gly36Glu)
NM_000487.6(ARSA):c.109_126dup (p.Asp37_Gly42dup) rs1555901139
NM_000487.6(ARSA):c.10G>A (p.Gly4Arg)
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) rs199476369
NM_000487.6(ARSA):c.1108-12C>G rs757806374
NM_000487.6(ARSA):c.1108-3C>G rs1001100248
NM_000487.6(ARSA):c.1118A>C (p.Gln373Pro)
NM_000487.6(ARSA):c.1149C>A (p.Asp383Glu)
NM_000487.6(ARSA):c.1157G>C (p.Arg386Pro) rs747155690
NM_000487.6(ARSA):c.1162G>T (p.Val388Phe) rs1222719732
NM_000487.6(ARSA):c.1163T>A (p.Val388Asp)
NM_000487.6(ARSA):c.116G>A (p.Gly39Asp)
NM_000487.6(ARSA):c.1171G>C (p.Val391Leu)
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000487.6(ARSA):c.1200C>T (p.Phe400=) rs1175674325
NM_000487.6(ARSA):c.1210+13C>T rs6151426
NM_000487.6(ARSA):c.1211-2A>G rs74925710
NM_000487.6(ARSA):c.1211-3C>T
NM_000487.6(ARSA):c.1214C>T (p.Ser405Phe)
NM_000487.6(ARSA):c.1252G>A (p.Ala418Thr)
NM_000487.6(ARSA):c.1256C>A (p.Ser419Tyr) rs998702737
NM_000487.6(ARSA):c.1280C>T (p.Pro427Leu)
NM_000487.6(ARSA):c.1286T>C (p.Leu429Pro) rs1460092963
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.1294G>A (p.Asp432Asn)
NM_000487.6(ARSA):c.1298T>G (p.Leu433Arg) rs2146716505
NM_000487.6(ARSA):c.1305G>A (p.Lys435=) rs2146716483
NM_000487.6(ARSA):c.1307A>G (p.Asp436Gly)
NM_000487.6(ARSA):c.130C>A (p.Pro44Thr)
NM_000487.6(ARSA):c.1313G>A (p.Gly438Asp)
NM_000487.6(ARSA):c.1341G>A (p.Val447=)
NM_000487.6(ARSA):c.1363C>A (p.Leu455Met)
NM_000487.6(ARSA):c.1370C>T (p.Ala457Val)
NM_000487.6(ARSA):c.1376A>G (p.Lys459Arg)
NM_000487.6(ARSA):c.1385A>G (p.Gln462Arg) rs2146716052
NM_000487.6(ARSA):c.1390C>T (p.Leu464Phe) rs2146716030
NM_000487.6(ARSA):c.1397C>T (p.Ala466Val) rs763065602
NM_000487.6(ARSA):c.1400A>C (p.Gln467Pro)
NM_000487.6(ARSA):c.1408_1419del (p.Ala470_Thr473del) rs2082643081
NM_000487.6(ARSA):c.1417A>T (p.Thr473Ser) rs1603444852
NM_000487.6(ARSA):c.1429A>T (p.Ser477Cys)
NM_000487.6(ARSA):c.1434G>C (p.Gln478His) rs769169905
NM_000487.6(ARSA):c.1435G>A (p.Val479Met)
NM_000487.6(ARSA):c.1436T>C (p.Val479Ala)
NM_000487.6(ARSA):c.1439C>T (p.Ala480Val) rs1490565534
NM_000487.6(ARSA):c.1446C>T (p.Gly482=) rs759357711
NM_000487.6(ARSA):c.1453C>T (p.Pro485Ser)
NM_000487.6(ARSA):c.1456G>A (p.Ala486Thr)
NM_000487.6(ARSA):c.1463A>G (p.Gln488Arg) rs2146715572
NM_000487.6(ARSA):c.1472G>A (p.Cys491Tyr) rs1060499585
NM_000487.6(ARSA):c.1480G>A (p.Gly494Ser) rs144323513
NM_000487.6(ARSA):c.1490_1492del (p.Pro497del) rs774153480
NM_000487.6(ARSA):c.1492C>A (p.Arg498Ser)
NM_000487.6(ARSA):c.1492C>T (p.Arg498Cys)
NM_000487.6(ARSA):c.1492del (p.Arg498fs)
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000487.6(ARSA):c.1516G>T (p.Asp506Tyr) rs764345345
NM_000487.6(ARSA):c.151C>G (p.Leu51Val) rs1348625953
NM_000487.6(ARSA):c.1523A>G (p.His508Arg) rs2082640761
NM_000487.6(ARSA):c.154G>A (p.Asp52Asn) rs2146728012
NM_000487.6(ARSA):c.169G>A (p.Gly57Arg)
NM_000487.6(ARSA):c.173G>T (p.Gly58Val) rs2082698425
NM_000487.6(ARSA):c.176T>C (p.Leu59Pro)
NM_000487.6(ARSA):c.17C>T (p.Pro6Leu)
NM_000487.6(ARSA):c.190T>A (p.Phe64Ile) rs2082698085
NM_000487.6(ARSA):c.196G>A (p.Val66Met)
NM_000487.6(ARSA):c.200C>T (p.Pro67Leu) rs765558965
NM_000487.6(ARSA):c.205T>C (p.Ser69Pro) rs2146727641
NM_000487.6(ARSA):c.221C>G (p.Ser74Cys) rs2146727534
NM_000487.6(ARSA):c.225-15T>C
NM_000487.6(ARSA):c.225-3C>G rs756812838
NM_000487.6(ARSA):c.231_232delinsTT (p.Leu78Phe) rs1603445011
NM_000487.6(ARSA):c.247C>T (p.Leu83Phe) rs1603445008
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu) rs74315458
NM_000487.6(ARSA):c.25C>A (p.Leu9Ile)
NM_000487.6(ARSA):c.264C>T (p.Gly88=)
NM_000487.6(ARSA):c.276C>T (p.Gly92=) rs978006787
NM_000487.6(ARSA):c.278T>G (p.Val93Gly) rs2146726476
NM_000487.6(ARSA):c.28C>G (p.Leu10Val) rs911532602
NM_000487.6(ARSA):c.295C>T (p.Arg99Trp)
NM_000487.6(ARSA):c.296G>A (p.Arg99Gln) rs759295985
NM_000487.6(ARSA):c.296G>C (p.Arg99Pro) rs759295985
NM_000487.6(ARSA):c.296G>T (p.Arg99Leu) rs759295985
NM_000487.6(ARSA):c.308C>G (p.Pro103Arg)
NM_000487.6(ARSA):c.323C>T (p.Thr108Ile)
NM_000487.6(ARSA):c.326T>C (p.Val109Ala)
NM_000487.6(ARSA):c.329C>T (p.Ala110Val) rs1191014984
NM_000487.6(ARSA):c.347G>A (p.Arg116Gln) rs754795152
NM_000487.6(ARSA):c.349G>A (p.Gly117Ser) rs2146725948
NM_000487.6(ARSA):c.349G>C (p.Gly117Arg)
NM_000487.6(ARSA):c.355C>G (p.Leu119Val) rs1569081347
NM_000487.6(ARSA):c.388G>A (p.Val130Met)
NM_000487.6(ARSA):c.38T>A (p.Leu13Gln)
NM_000487.6(ARSA):c.392G>A (p.Gly131Glu) rs1336260427
NM_000487.6(ARSA):c.394C>T (p.Pro132Ser)
NM_000487.6(ARSA):c.398_409del (p.Glu133_Leu137delinsVal) rs1555901024
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.419A>T (p.His140Leu) rs2082687894
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter) rs1057516730
NM_000487.6(ARSA):c.424G>A (p.Gly142Ser) rs2146725322
NM_000487.6(ARSA):c.446T>C (p.Ile149Thr)
NM_000487.6(ARSA):c.454T>A (p.Ser152Thr)
NM_000487.6(ARSA):c.455C>G (p.Ser152Cys)
NM_000487.6(ARSA):c.460G>C (p.Asp154His)
NM_000487.6(ARSA):c.465+3A>G rs2082686619
NM_000487.6(ARSA):c.465+5G>A rs752777806
NM_000487.6(ARSA):c.473G>C (p.Cys158Ser) rs1226689808
NM_000487.6(ARSA):c.484A>G (p.Thr162Ala)
NM_000487.6(ARSA):c.485C>G (p.Thr162Ser)
NM_000487.6(ARSA):c.488G>A (p.Cys163Tyr) rs1430695346
NM_000487.6(ARSA):c.498G>A (p.Pro166=)
NM_000487.6(ARSA):c.511G>T (p.Asp171Tyr) rs74315466
NM_000487.6(ARSA):c.518G>A (p.Gly173Asp)
NM_000487.6(ARSA):c.535G>A (p.Val179Ile)
NM_000487.6(ARSA):c.545C>A (p.Pro182Gln)
NM_000487.6(ARSA):c.558C>A (p.Asn186Lys)
NM_000487.6(ARSA):c.562T>G (p.Ser188Ala) rs1428555439
NM_000487.6(ARSA):c.565G>A (p.Val189Met)
NM_000487.6(ARSA):c.568G>C (p.Glu190Gln)
NM_000487.6(ARSA):c.571G>A (p.Ala191Thr) rs2146723680
NM_000487.6(ARSA):c.577C>T (p.Pro193Ser)
NM_000487.6(ARSA):c.619G>A (p.Ala207Thr)
NM_000487.6(ARSA):c.620C>T (p.Ala207Val) rs759098239
NM_000487.6(ARSA):c.633G>A (p.Met211Ile) rs773059458
NM_000487.6(ARSA):c.635C>G (p.Ala212Gly)
NM_000487.6(ARSA):c.646C>T (p.Arg216Cys)
NM_000487.6(ARSA):c.658C>A (p.Pro220Thr)
NM_000487.6(ARSA):c.661T>A (p.Phe221Ile)
NM_000487.6(ARSA):c.684+2dup rs1555900843
NM_000487.6(ARSA):c.698C>G (p.Pro233Arg)
NM_000487.6(ARSA):c.724G>A (p.Glu242Lys) rs757891932
NM_000487.6(ARSA):c.725A>G (p.Glu242Gly) rs1403824251
NM_000487.6(ARSA):c.761T>C (p.Met254Thr) rs1200786946
NM_000487.6(ARSA):c.778G>T (p.Val260Leu) rs2082674602
NM_000487.6(ARSA):c.781G>A (p.Gly261Arg) rs138850940
NM_000487.6(ARSA):c.782G>A (p.Gly261Glu)
NM_000487.6(ARSA):c.800T>C (p.Ile267Thr)
NM_000487.6(ARSA):c.802G>A (p.Gly268Arg) rs1404723529
NM_000487.6(ARSA):c.818T>C (p.Leu273Pro)
NM_000487.6(ARSA):c.820G>A (p.Glu274Lys)
NM_000487.6(ARSA):c.823G>A (p.Glu275Lys)
NM_000487.6(ARSA):c.823G>C (p.Glu275Gln)
NM_000487.6(ARSA):c.854G>A (p.Gly285Glu)
NM_000487.6(ARSA):c.86T>C (p.Phe29Ser) rs2146728488
NM_000487.6(ARSA):c.874_883del (p.Ser292fs) rs2082666231
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000487.6(ARSA):c.913G>A (p.Gly305Arg) rs2146720596
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.937C>A (p.Arg313=) rs551472773
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) rs551472773
NM_000487.6(ARSA):c.938G>T (p.Arg313Leu)
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.947C>A (p.Ala316Asp) rs1569078754
NM_000487.6(ARSA):c.953C>T (p.Ala318Val) rs997702399
NM_000487.6(ARSA):c.967C>T (p.His323Tyr) rs920501988
NM_000487.6(ARSA):c.973G>A (p.Ala325Thr)
NM_000487.6(ARSA):c.978C>T (p.Pro326=)
NM_000487.6(ARSA):c.980-21_980-20delinsCT
NM_000487.6(ARSA):c.981C>T (p.Gly327=)
NM_000487.6(ARSA):c.986C>G (p.Thr329Ser)

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