ClinVar Miner

List of variants studied for metachromatic leukodystrophy by Gelb Laboratory, University of Washington

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 306
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
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.1325A>G (p.Asn442Ser) rs6151427 0.00096
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile) rs201085386 0.00042
NM_000487.6(ARSA):c.40G>A (p.Ala14Thr) rs145157196 0.00040
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
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.1258A>C (p.Ser420Arg) rs139073195 0.00012
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
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.1297C>G (p.Leu433Val) rs201693608 0.00009
NM_000487.6(ARSA):c.1345G>A (p.Gly449Arg) rs117341984 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.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.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.492C>G (p.Phe164Leu) rs745605987 0.00004
NM_000487.6(ARSA):c.601G>T (p.Ala201Ser) rs377625311 0.00004
NM_000487.6(ARSA):c.826A>T (p.Thr276Ser) rs140966324 0.00004
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360 0.00004
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.514G>A (p.Gly172Ser) rs74315271 0.00003
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468 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.1211-4C>T rs770243080 0.00002
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) rs199476380 0.00002
NM_000487.6(ARSA):c.1450G>C (p.Asp484His) rs749061034 0.00002
NM_000487.6(ARSA):c.222T>C (p.Ser74=) rs760597265 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.466-8C>T rs765768453 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.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477 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.1197C>G (p.His399Gln) rs752206330 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.1211-5C>G rs778131215 0.00001
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile) rs28940895 0.00001
NM_000487.6(ARSA):c.1277A>G (p.Glu426Gly) rs376220189 0.00001
NM_000487.6(ARSA):c.1378C>G (p.Gln460Glu) rs973061258 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.160C>G (p.Leu54Val) rs1410632651 0.00001
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp) rs867538940 0.00001
NM_000487.6(ARSA):c.224+8G>A rs775536824 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe) rs886057658 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.385G>A (p.Gly129Arg) rs753872402 0.00001
NM_000487.6(ARSA):c.442G>A (p.Gly148Ser) rs1188592346 0.00001
NM_000487.6(ARSA):c.460G>A (p.Asp154Asn) rs199476365 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.577C>A (p.Pro193Thr) rs199476374 0.00001
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) rs199476345 0.00001
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr) rs199476341 0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350 0.00001
NM_000487.6(ARSA):c.684+1G>A rs146371968 0.00001
NM_000487.6(ARSA):c.701A>G (p.Gln234Arg) rs748583298 0.00001
NM_000487.6(ARSA):c.727C>T (p.Arg243Cys) rs369593442 0.00001
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470 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.771T>A (p.Asp257Glu) rs563053401 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.855-1G>A rs754898479 0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473 0.00001
NM_000487.6(ARSA):c.878G>A (p.Arg293Gln) rs373866455 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.892G>A (p.Gly298Ser) rs748876604 0.00001
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp) rs794727704 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 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.989A>G (p.His330Arg) rs1359332879 0.00001
NM_000487.6(ARSA):c.1024C>G (p.Leu342Val)
NM_000487.6(ARSA):c.1039G>A (p.Gly347Arg)
NM_000487.6(ARSA):c.104A>C (p.Tyr35Ser)
NM_000487.6(ARSA):c.1054A>C (p.Asn352His)
NM_000487.6(ARSA):c.1060A>T (p.Thr354Ser)
NM_000487.6(ARSA):c.1067A>T (p.Asp356Val)
NM_000487.6(ARSA):c.1075G>A (p.Asp359Asn)
NM_000487.6(ARSA):c.1075G>T (p.Asp359Tyr)
NM_000487.6(ARSA):c.10G>C (p.Gly4Arg)
NM_000487.6(ARSA):c.1107+8C>G rs551131929
NM_000487.6(ARSA):c.1108-3C>G rs1001100248
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1118A>C (p.Gln373Pro)
NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn) rs199476344
NM_000487.6(ARSA):c.1136C>A (p.Pro379Gln)
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu) rs74315478
NM_000487.6(ARSA):c.1141T>C (p.Tyr381His)
NM_000487.6(ARSA):c.1156C>G (p.Arg386Gly)
NM_000487.6(ARSA):c.115G>A (p.Gly39Ser)
NM_000487.6(ARSA):c.115G>C (p.Gly39Arg)
NM_000487.6(ARSA):c.1160G>C (p.Gly387Ala)
NM_000487.6(ARSA):c.1166T>C (p.Phe389Ser)
NM_000487.6(ARSA):c.116G>A (p.Gly39Asp)
NM_000487.6(ARSA):c.1174C>G (p.Arg392Gly)
NM_000487.6(ARSA):c.1175G>T (p.Arg392Leu)
NM_000487.6(ARSA):c.1177A>G (p.Thr393Ala)
NM_000487.6(ARSA):c.1180G>A (p.Gly394Arg)
NM_000487.6(ARSA):c.1201T>C (p.Phe401Leu)
NM_000487.6(ARSA):c.1207C>G (p.Gln403Glu)
NM_000487.6(ARSA):c.1210+49G>A
NM_000487.6(ARSA):c.1211-8C>T rs1203092056
NM_000487.6(ARSA):c.1213T>C (p.Ser405Pro)
NM_000487.6(ARSA):c.1214C>T (p.Ser405Phe)
NM_000487.6(ARSA):c.1216G>T (p.Ala406Ser)
NM_000487.6(ARSA):c.1222A>G (p.Ser408Gly) rs199476361
NM_000487.6(ARSA):c.1223G>A (p.Ser408Asn)
NM_000487.6(ARSA):c.1223G>C (p.Ser408Thr)
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.122A>G (p.Tyr41Cys)
NM_000487.6(ARSA):c.1238A>G (p.Asp413Gly) rs1383481612
NM_000487.6(ARSA):c.123T>A (p.Tyr41Ter)
NM_000487.6(ARSA):c.1252G>A (p.Ala418Thr)
NM_000487.6(ARSA):c.1262C>G (p.Ser421Cys)
NM_000487.6(ARSA):c.1265T>C (p.Leu422Pro)
NM_000487.6(ARSA):c.1271C>T (p.Ala424Val)
NM_000487.6(ARSA):c.1273C>G (p.His425Asp)
NM_000487.6(ARSA):c.1273C>T (p.His425Tyr)
NM_000487.6(ARSA):c.1286T>C (p.Leu429Pro) rs1460092963
NM_000487.6(ARSA):c.1288C>T (p.Leu430Phe)
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.1292A>G (p.Tyr431Cys)
NM_000487.6(ARSA):c.1294G>T (p.Asp432Tyr)
NM_000487.6(ARSA):c.1306G>A (p.Asp436Asn)
NM_000487.6(ARSA):c.1309C>A (p.Pro437Thr)
NM_000487.6(ARSA):c.1312G>A (p.Gly438Ser)
NM_000487.6(ARSA):c.1313G>T (p.Gly438Val)
NM_000487.6(ARSA):c.1320C>G (p.Asn440Lys)
NM_000487.6(ARSA):c.1355C>T (p.Pro452Leu)
NM_000487.6(ARSA):c.1369G>A (p.Ala457Thr)
NM_000487.6(ARSA):c.136T>C (p.Ser46Pro)
NM_000487.6(ARSA):c.1375A>G (p.Lys459Glu)
NM_000487.6(ARSA):c.1376A>G (p.Lys459Arg)
NM_000487.6(ARSA):c.1391T>C (p.Leu464Pro)
NM_000487.6(ARSA):c.1397C>T (p.Ala466Val) rs763065602
NM_000487.6(ARSA):c.1408G>A (p.Ala470Thr)
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.1439C>T (p.Ala480Val) rs1490565534
NM_000487.6(ARSA):c.143C>T (p.Thr48Ile)
NM_000487.6(ARSA):c.1453C>T (p.Pro485Ser)
NM_000487.6(ARSA):c.1456G>A (p.Ala486Thr)
NM_000487.6(ARSA):c.1493G>C (p.Arg498Pro)
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000487.6(ARSA):c.1507C>T (p.His503Tyr)
NM_000487.6(ARSA):c.161T>C (p.Leu54Pro) rs199476357
NM_000487.6(ARSA):c.181T>C (p.Phe61Leu)
NM_000487.6(ARSA):c.197T>C (p.Val66Ala)
NM_000487.6(ARSA):c.20G>C (p.Arg7Pro)
NM_000487.6(ARSA):c.213C>A (p.Cys71Ter)
NM_000487.6(ARSA):c.241G>A (p.Gly81Ser)
NM_000487.6(ARSA):c.241G>C (p.Gly81Arg)
NM_000487.6(ARSA):c.245G>C (p.Arg82Pro)
NM_000487.6(ARSA):c.25C>G (p.Leu9Val)
NM_000487.6(ARSA):c.269A>G (p.Tyr90Cys)
NM_000487.6(ARSA):c.275G>A (p.Gly92Asp)
NM_000487.6(ARSA):c.280C>G (p.Leu94Val)
NM_000487.6(ARSA):c.283G>A (p.Val95Met)
NM_000487.6(ARSA):c.28C>T (p.Leu10Phe)
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.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.328G>A (p.Ala110Thr)
NM_000487.6(ARSA):c.346C>G (p.Arg116Gly)
NM_000487.6(ARSA):c.350G>T (p.Gly117Val)
NM_000487.6(ARSA):c.370G>T (p.Gly124Cys) rs74315461
NM_000487.6(ARSA):c.38T>A (p.Leu13Gln)
NM_000487.6(ARSA):c.397G>A (p.Glu133Lys)
NM_000487.6(ARSA):c.404C>A (p.Ala135Asp)
NM_000487.6(ARSA):c.412C>A (p.Pro138Thr)
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser) rs60504011
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.416C>T (p.Pro139Leu)
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.418C>T (p.His140Tyr)
NM_000487.6(ARSA):c.436T>C (p.Phe146Leu)
NM_000487.6(ARSA):c.442G>C (p.Gly148Arg)
NM_000487.6(ARSA):c.446T>C (p.Ile149Thr)
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg) rs199476375
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.454T>A (p.Ser152Thr)
NM_000487.6(ARSA):c.460G>C (p.Asp154His)
NM_000487.6(ARSA):c.465+42A>C
NM_000487.6(ARSA):c.465+44G>A
NM_000487.6(ARSA):c.465+6A>G
NM_000487.6(ARSA):c.465G>T (p.Gln155His)
NM_000487.6(ARSA):c.466-11G>C
NM_000487.6(ARSA):c.466-18G>C
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.6(ARSA):c.473G>T (p.Cys158Phe)
NM_000487.6(ARSA):c.477G>C (p.Gln159His)
NM_000487.6(ARSA):c.485C>G (p.Thr162Ser)
NM_000487.6(ARSA):c.497C>T (p.Pro166Leu)
NM_000487.6(ARSA):c.500C>T (p.Ala167Val)
NM_000487.6(ARSA):c.511G>T (p.Asp171Tyr) rs74315466
NM_000487.6(ARSA):c.514G>T (p.Gly172Cys)
NM_000487.6(ARSA):c.520T>C (p.Cys174Arg)
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp) rs556812341
NM_000487.6(ARSA):c.536T>G (p.Val179Gly)
NM_000487.6(ARSA):c.553G>T (p.Ala185Ser)
NM_000487.6(ARSA):c.562T>G (p.Ser188Ala) rs1428555439
NM_000487.6(ARSA):c.565G>A (p.Val189Met)
NM_000487.6(ARSA):c.572C>T (p.Ala191Val)
NM_000487.6(ARSA):c.580C>G (p.Pro194Ala)
NM_000487.6(ARSA):c.581C>T (p.Pro194Leu)
NM_000487.6(ARSA):c.602C>T (p.Ala201Val)
NM_000487.6(ARSA):c.607T>C (p.Tyr203His) rs2082680103
NM_000487.6(ARSA):c.616T>G (p.Phe206Val)
NM_000487.6(ARSA):c.619G>A (p.Ala207Thr)
NM_000487.6(ARSA):c.620C>A (p.Ala207Asp) rs759098239
NM_000487.6(ARSA):c.622C>T (p.His208Tyr)
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.641C>A (p.Ala214Asp)
NM_000487.6(ARSA):c.645G>C (p.Gln215His)
NM_000487.6(ARSA):c.646C>T (p.Arg216Cys)
NM_000487.6(ARSA):c.647G>A (p.Arg216His)
NM_000487.6(ARSA):c.655C>T (p.Arg219Cys)
NM_000487.6(ARSA):c.658C>A (p.Pro220Thr)
NM_000487.6(ARSA):c.658C>T (p.Pro220Ser)
NM_000487.6(ARSA):c.671A>G (p.Tyr224Cys)
NM_000487.6(ARSA):c.682C>G (p.His228Asp)
NM_000487.6(ARSA):c.684+26G>A
NM_000487.6(ARSA):c.684+4A>C
NM_000487.6(ARSA):c.685-2A>G rs1490196552
NM_000487.6(ARSA):c.685-7C>T
NM_000487.6(ARSA):c.697C>G (p.Pro233Ala)
NM_000487.6(ARSA):c.703T>C (p.Phe235Leu)
NM_000487.6(ARSA):c.712C>G (p.Gln238Glu)
NM_000487.6(ARSA):c.731C>T (p.Ser244Leu)
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.757C>G (p.Leu253Val)
NM_000487.6(ARSA):c.761T>C (p.Met254Thr) rs1200786946
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.769G>A (p.Asp257Asn)
NM_000487.6(ARSA):c.781G>A (p.Gly261Arg) rs138850940
NM_000487.6(ARSA):c.781G>C (p.Gly261Arg)
NM_000487.6(ARSA):c.800T>C (p.Ile267Thr)
NM_000487.6(ARSA):c.802G>A (p.Gly268Arg) rs1404723529
NM_000487.6(ARSA):c.803G>T (p.Gly268Val)
NM_000487.6(ARSA):c.811G>C (p.Gly271Arg)
NM_000487.6(ARSA):c.815T>A (p.Leu272Gln)
NM_000487.6(ARSA):c.820G>A (p.Glu274Lys)
NM_000487.6(ARSA):c.832G>T (p.Val278Phe)
NM_000487.6(ARSA):c.837C>G (p.Ile279Met)
NM_000487.6(ARSA):c.842C>T (p.Thr281Ile) rs966673017
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser) rs199476342
NM_000487.6(ARSA):c.854+40G>A
NM_000487.6(ARSA):c.855-8T>A
NM_000487.6(ARSA):c.856C>A (p.Pro286Thr)
NM_000487.6(ARSA):c.859G>C (p.Glu287Gln)
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) rs28940894
NM_000487.6(ARSA):c.863C>A (p.Thr288Asn)
NM_000487.6(ARSA):c.866T>C (p.Met289Thr)
NM_000487.6(ARSA):c.875C>T (p.Ser292Phe)
NM_000487.6(ARSA):c.883G>T (p.Gly295Cys)
NM_000487.6(ARSA):c.896T>C (p.Leu299Pro)
NM_000487.6(ARSA):c.900G>C (p.Leu300Phe)
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly) rs794727704
NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.942G>C (p.Glu314Asp)
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.951G>T (p.Leu317Phe)
NM_000487.6(ARSA):c.956T>G (p.Phe319Cys)
NM_000487.6(ARSA):c.958T>G (p.Trp320Gly)
NM_000487.6(ARSA):c.973G>A (p.Ala325Thr)
NM_000487.6(ARSA):c.980-2A>C rs769152137
NM_000487.6(ARSA):c.980-6C>G
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418

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