ClinVar Miner

List of variants in gene ARSA reported as likely pathogenic for Metachromatic leukodystrophy

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Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
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.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181 0.00004
NM_000487.6(ARSA):c.826A>T (p.Thr276Ser) rs140966324 0.00004
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) rs755635209 0.00003
NM_000487.6(ARSA):c.542dup (p.Leu183fs) rs776748338 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476 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.1197C>G (p.His399Gln) rs752206330 0.00001
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile) rs28940895 0.00001
NM_000487.6(ARSA):c.160C>G (p.Leu54Val) rs1410632651 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.245G>A (p.Arg82Gln) rs769892461 0.00001
NM_000487.6(ARSA):c.248T>C (p.Leu83Pro) rs1190061000 0.00001
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro) rs777431148 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.526C>T (p.Gln176Ter) rs762284875 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.674A>G (p.Tyr225Cys) rs527640350 0.00001
NM_000487.6(ARSA):c.701A>G (p.Gln234Arg) rs748583298 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.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473 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.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000487.6(ARSA):c.1036del (p.Ala346fs) rs1555900463
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1107+1del rs1057517036
NM_000487.6(ARSA):c.1108-1G>C rs2146718041
NM_000487.6(ARSA):c.1108-3C>G rs1001100248
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1136C>A (p.Pro379Gln)
NM_000487.6(ARSA):c.1174C>G (p.Arg392Gly)
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000487.6(ARSA):c.1187A>C (p.Tyr396Ser) rs2146717660
NM_000487.6(ARSA):c.1196A>G (p.His399Arg)
NM_000487.6(ARSA):c.1199T>C (p.Phe400Ser)
NM_000487.6(ARSA):c.1200C>T (p.Phe400=) rs1175674325
NM_000487.6(ARSA):c.1210+1G>T rs80338820
NM_000487.6(ARSA):c.1222_1232del (p.Ser408fs) rs1555900191
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.1227_1228del (p.Thr410fs) rs2082647866
NM_000487.6(ARSA):c.122A>G (p.Tyr41Cys)
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1238A>G (p.Asp413Gly) rs1383481612
NM_000487.6(ARSA):c.1269del (p.Ala424fs) rs2082646919
NM_000487.6(ARSA):c.1276G>A (p.Glu426Lys) rs2146716641
NM_000487.6(ARSA):c.1282C>G (p.Pro428Ala) rs2146716603
NM_000487.6(ARSA):c.1282C>T (p.Pro428Ser)
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)
NM_000487.6(ARSA):c.1288C>T (p.Leu430Phe)
NM_000487.6(ARSA):c.1323del (p.Asn440_Tyr441insTer) rs1555900150
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
NM_000487.6(ARSA):c.133A>G (p.Ser45Gly)
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.135C>G (p.Ser45Arg)
NM_000487.6(ARSA):c.136T>C (p.Ser46Pro)
NM_000487.6(ARSA):c.1388del (p.Leu463fs) rs1057517237
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter) rs148352371
NM_000487.6(ARSA):c.1468T>C (p.Cys490Arg) rs755974448
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.179G>C (p.Arg60Pro) rs750005732
NM_000487.6(ARSA):c.185_186dup (p.Asp63fs) rs1227301119
NM_000487.6(ARSA):c.200del (p.Pro67fs) rs2082697802
NM_000487.6(ARSA):c.206_209del (p.Ser69fs) rs1555901112
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.224+1G>A rs1555901108
NM_000487.6(ARSA):c.224+1G>T rs1555901108
NM_000487.6(ARSA):c.224+2T>A rs2146727518
NM_000487.6(ARSA):c.225-1G>C
NM_000487.6(ARSA):c.225-2A>G rs1555901083
NM_000487.6(ARSA):c.227_228insTA (p.Ala77fs) rs1057516595
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.244del (p.Arg82fs) rs1569081823
NM_000487.6(ARSA):c.251C>G (p.Pro84Arg)
NM_000487.6(ARSA):c.256C>G (p.Arg86Gly)
NM_000487.6(ARSA):c.295dup (p.Arg99fs) rs1555901056
NM_000487.6(ARSA):c.2T>C (p.Met1Thr) rs1555901170
NM_000487.6(ARSA):c.301G>T (p.Gly101Cys)
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.335T>A (p.Val112Asp) rs2082690324
NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) rs786200965
NM_000487.6(ARSA):c.370G>T (p.Gly124Cys) rs74315461
NM_000487.6(ARSA):c.371G>A (p.Gly124Asp) rs2082689435
NM_000487.6(ARSA):c.386G>A (p.Gly129Glu)
NM_000487.6(ARSA):c.412C>G (p.Pro138Ala)
NM_000487.6(ARSA):c.413C>A (p.Pro138His) rs74315462
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.418del (p.His140fs) rs745884435
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter) rs1057516730
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) rs199476373
NM_000487.6(ARSA):c.436T>C (p.Phe146Leu)
NM_000487.6(ARSA):c.448C>T (p.Pro150Ser) rs1569081077
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.460G>T (p.Asp154Tyr) rs199476365
NM_000487.6(ARSA):c.465+2T>A rs1555900989
NM_000487.6(ARSA):c.465G>A (p.Gln155=) rs199476377
NM_000487.6(ARSA):c.466-2A>G rs1057517044
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.6(ARSA):c.494dup (p.Pro166fs) rs1057517346
NM_000487.6(ARSA):c.545del (p.Pro182fs) rs1057516907
NM_000487.6(ARSA):c.572_573insTGTCTCTTATA (p.Gln192fs)
NM_000487.6(ARSA):c.580C>T (p.Pro194Ser)
NM_000487.6(ARSA):c.581C>A (p.Pro194His) rs769492279
NM_000487.6(ARSA):c.607T>C (p.Tyr203His) rs2082680103
NM_000487.6(ARSA):c.609_610del (p.Met204fs)
NM_000487.6(ARSA):c.620C>A (p.Ala207Asp) rs759098239
NM_000487.6(ARSA):c.622del (p.His208fs) rs1555900900
NM_000487.6(ARSA):c.662T>C (p.Phe221Ser) rs2146723107
NM_000487.6(ARSA):c.674_675dup (p.Ala226fs) rs1057516373
NM_000487.6(ARSA):c.676G>T (p.Ala226Ser)
NM_000487.6(ARSA):c.677C>A (p.Ala226Asp) rs74315468
NM_000487.6(ARSA):c.679T>C (p.Ser227Pro) rs1555900849
NM_000487.6(ARSA):c.680C>T (p.Ser227Phe)
NM_000487.6(ARSA):c.700C>G (p.Gln234Glu) rs2082676249
NM_000487.6(ARSA):c.724G>T (p.Glu242Ter) rs757891932
NM_000487.6(ARSA):c.730_731del (p.Ser244fs)
NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.746T>G (p.Phe249Cys) rs199476384
NM_000487.6(ARSA):c.758dup (p.Met254fs) rs74315270
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.764A>C (p.Glu255Ala)
NM_000487.6(ARSA):c.765G>C (p.Glu255Asp)
NM_000487.6(ARSA):c.769G>A (p.Asp257Asn)
NM_000487.6(ARSA):c.770A>T (p.Asp257Val)
NM_000487.6(ARSA):c.771T>G (p.Asp257Glu)
NM_000487.6(ARSA):c.827C>A (p.Thr276Lys) rs74315472
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.863C>A (p.Thr288Asn)
NM_000487.6(ARSA):c.868C>G (p.Arg290Gly)
NM_000487.6(ARSA):c.869G>C (p.Arg290Pro)
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.6(ARSA):c.891del (p.Gly298fs) rs1057517073
NM_000487.6(ARSA):c.892G>T (p.Gly298Cys) rs748876604
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) rs199476389
NM_000487.6(ARSA):c.899T>G (p.Leu300Trp)
NM_000487.6(ARSA):c.908G>T (p.Gly303Val)
NM_000487.6(ARSA):c.916A>G (p.Thr306Ala)
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter) rs199476360
NM_000487.6(ARSA):c.925dup (p.Glu309fs) rs1555900623
NM_000487.6(ARSA):c.926A>G (p.Glu309Gly)
NM_000487.6(ARSA):c.926A>T (p.Glu309Val) rs1085308016
NM_000487.6(ARSA):c.928G>A (p.Gly310Ser)
NM_000487.6(ARSA):c.928G>T (p.Gly310Cys)
NM_000487.6(ARSA):c.929del (p.Gly310fs) rs1057516638
NM_000487.6(ARSA):c.931G>C (p.Gly311Arg) rs74315459
NM_000487.6(ARSA):c.931G>T (p.Gly311Cys)
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) rs551472773
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.937dup (p.Arg313fs)
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.958T>G (p.Trp320Gly)
NM_000487.6(ARSA):c.979+1G>A rs754722529
NM_000487.6(ARSA):c.979_979+3del rs1057516887
NM_000487.6(ARSA):c.980-2A>C rs769152137
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419
NM_000487.6(ARSA):c.992A>G (p.Glu331Gly)

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