ClinVar Miner

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

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Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
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.869G>A (p.Arg290His) rs199476355 0.00011
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 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.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.542dup (p.Leu183fs) rs776748338 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.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.991G>A (p.Glu331Lys) rs398123419 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.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.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.256C>T (p.Arg86Trp) rs199476352 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.433C>T (p.Arg145Ter) rs199476373 0.00001
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter) rs762284875 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.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.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 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.883G>A (p.Gly295Ser) rs199476349 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
ARSA, 1-BP DEL, 297C
NC_000022.10:g.(?_51063563)_(51066217_?)del
NC_000022.10:g.(?_51063573)_(51064511_?)del
NC_000022.10:g.(?_51064344)_(51066227_?)del
NC_000022.10:g.(?_51065065)_(51065595_?)del
NC_000022.11:g.(?_50625125)_(50627799_?)del
NM_000487.5(ARSA):c.467del rs2082684340
NM_000487.6(ARSA):c.1007T>C (p.Leu336Pro) rs2082660121
NM_000487.6(ARSA):c.1030del (p.Ala344fs)
NM_000487.6(ARSA):c.1046del (p.Pro349fs) rs1603444908
NM_000487.6(ARSA):c.1053del (p.Asn352fs)
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro) rs2082658031
NM_000487.6(ARSA):c.1087dup (p.Leu363fs) rs2082657747
NM_000487.6(ARSA):c.109G>C (p.Asp37His) rs2146728318
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1107+1G>A rs2146718906
NM_000487.6(ARSA):c.1107+1G>C
NM_000487.6(ARSA):c.1107+1G>T rs2146718906
NM_000487.6(ARSA):c.1107+1del rs1057517036
NM_000487.6(ARSA):c.1108-2A>G rs398123411
NM_000487.6(ARSA):c.110_111insACTGGGCTGCTATGGGCA (p.Asp37delinsGluLeuGlyCysTyrGlyHis)
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1123_1126del (p.Leu375fs) rs398123412
NM_000487.6(ARSA):c.1128_1129dup (p.Phe377fs)
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu) rs74315478
NM_000487.6(ARSA):c.1136del (p.Pro379fs) rs2146717905
NM_000487.6(ARSA):c.116dup (p.Cys40fs)
NM_000487.6(ARSA):c.1198TTC[1] (p.Phe401del) rs1569077723
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1228_1229del (p.Thr410fs) rs2146716979
NM_000487.6(ARSA):c.1228dup (p.Thr410fs) rs2146716994
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1264_1265del (p.Leu422fs)
NM_000487.6(ARSA):c.1274A>G (p.His425Arg) rs1135401757
NM_000487.6(ARSA):c.1278del (p.Glu426fs)
NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.1293T>A (p.Tyr431Ter) rs1209071029
NM_000487.6(ARSA):c.129_133del (p.His43fs)
NM_000487.6(ARSA):c.1314_1315del (p.Asn440fs)
NM_000487.6(ARSA):c.1330dup (p.Leu444fs)
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter) rs2082644196
NM_000487.6(ARSA):c.1378C>T (p.Gln460Ter) rs973061258
NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)
NM_000487.6(ARSA):c.13del (p.Ala5fs) rs919125796
NM_000487.6(ARSA):c.1428dup (p.Ser477fs)
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter) rs148352371
NM_000487.6(ARSA):c.1451del (p.Asp484fs)
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.157C>T (p.Gln53Ter) rs1603445026
NM_000487.6(ARSA):c.157_164del (p.Gln53fs) rs2082698834
NM_000487.6(ARSA):c.185_186del (p.Thr62fs) rs1227301119
NM_000487.6(ARSA):c.195C>G (p.Tyr65Ter)
NM_000487.6(ARSA):c.200del (p.Pro67fs) rs2082697802
NM_000487.6(ARSA):c.208_209del (p.Leu70fs) rs1555901112
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro) rs199476351
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.229G>C (p.Ala77Pro) rs763880042
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.244del (p.Arg82fs) rs1569081823
NM_000487.6(ARSA):c.245G>T (p.Arg82Leu)
NM_000487.6(ARSA):c.263G>A (p.Gly88Asp) rs74315460
NM_000487.6(ARSA):c.263del (p.Gly88fs)
NM_000487.6(ARSA):c.269_335del (p.Tyr90fs)
NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter) rs780399417
NM_000487.6(ARSA):c.272del (p.Pro91fs) rs2082692417
NM_000487.6(ARSA):c.295dup (p.Arg99fs) rs1555901056
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.302_303delinsTT (p.Gly101Val) rs2146726223
NM_000487.6(ARSA):c.302del (p.Gly101fs) rs761606317
NM_000487.6(ARSA):c.302dup (p.Leu102fs) rs761606317
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.311del (p.Leu104fs)
NM_000487.6(ARSA):c.349_350dup (p.Tyr118fs)
NM_000487.6(ARSA):c.34del (p.Ala12fs) rs398123415
NM_000487.6(ARSA):c.371G>A (p.Gly124Asp) rs2082689435
NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)
NM_000487.6(ARSA):c.393_425del (p.Pro132_Gly142del) rs2146725299
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.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.422del (p.Gln141fs)
NM_000487.6(ARSA):c.427T>C (p.Phe143Leu)
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.451dup (p.Tyr151fs) rs2082687168
NM_000487.6(ARSA):c.466-4_482del
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.6(ARSA):c.475C>T (p.Gln159Ter)
NM_000487.6(ARSA):c.488G>C (p.Cys163Ser) rs1430695346
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.506C>G (p.Pro169Arg) rs74315465
NM_000487.6(ARSA):c.514G>T (p.Gly172Cys)
NM_000487.6(ARSA):c.536del (p.Val179fs)
NM_000487.6(ARSA):c.545C>G (p.Pro182Arg) rs1135401755
NM_000487.6(ARSA):c.545del (p.Pro182fs) rs1057516907
NM_000487.6(ARSA):c.574C>T (p.Gln192Ter)
NM_000487.6(ARSA):c.581C>G (p.Pro194Arg) rs769492279
NM_000487.6(ARSA):c.582del (p.Trp195fs) rs2082680996
NM_000487.6(ARSA):c.582dup (p.Trp195fs) rs2082680996
NM_000487.6(ARSA):c.583del (p.Trp195fs) rs398123416
NM_000487.6(ARSA):c.584G>A (p.Trp195Ter)
NM_000487.6(ARSA):c.607T>C (p.Tyr203His) rs2082680103
NM_000487.6(ARSA):c.617dup (p.Ala207fs) rs2146723372
NM_000487.6(ARSA):c.61del (p.Arg21fs)
NM_000487.6(ARSA):c.622del (p.His208fs) rs1555900900
NM_000487.6(ARSA):c.629T>C (p.Leu210Pro)
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.645_660dup (p.Phe221fs)
NM_000487.6(ARSA):c.685-1G>A rs2082676596
NM_000487.6(ARSA):c.685-2A>G rs1490196552
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr) rs74315469
NM_000487.6(ARSA):c.700C>T (p.Gln234Ter) rs2082676249
NM_000487.6(ARSA):c.712C>T (p.Gln238Ter) rs751026400
NM_000487.6(ARSA):c.724G>T (p.Glu242Ter) rs757891932
NM_000487.6(ARSA):c.731C>A (p.Ser244Ter) rs1394861740
NM_000487.6(ARSA):c.737_744dup (p.Phe249fs)
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.758dup (p.Met254fs) rs74315270
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.836_837delinsAA (p.Ile279Lys) rs2082673250
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.852T>A (p.Asn284Lys) rs1135401756
NM_000487.6(ARSA):c.854+1G>A rs886041911
NM_000487.6(ARSA):c.854+1G>T rs886041911
NM_000487.6(ARSA):c.855-24_907del
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) rs28940894
NM_000487.6(ARSA):c.868_873del (p.Arg290_Met291del)
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr) rs74315474
NM_000487.6(ARSA):c.891_895del (p.Gly298fs)
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly) rs794727704
NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr) rs74315484
NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)
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.925G>T (p.Glu309Ter) rs199476360
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.929del (p.Gly310fs) rs1057516638
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.93C>G (p.Asp31Glu)
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.955_956insGCCTTGAT (p.Phe319fs)
NM_000487.6(ARSA):c.956_958del (p.Phe319del) rs2082663514
NM_000487.6(ARSA):c.970A>T (p.Ile324Phe)
NM_000487.6(ARSA):c.979+1G>A rs754722529
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.98T>C (p.Leu33Pro) rs1135401754
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419

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