ClinVar Miner

List of variants studied for Metachromatic leukodystrophy by Counsyl

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Total variants: 95
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HGVS dbSNP
NM_000487.5(ARSA):c.-15A>G rs909454884
NM_000487.5(ARSA):c.-35_-8del28 rs759081183
NM_000487.5(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.5(ARSA):c.1036delG (p.Ala346Leufs) rs1555900463
NM_000487.5(ARSA):c.109_116del8 (p.Asp37Leufs) rs753415648
NM_000487.5(ARSA):c.109_126dup (p.Gly42_His43insAspLeuGlyCysTyrGly) rs1555901139
NM_000487.5(ARSA):c.1107+1delG rs1057517036
NM_000487.5(ARSA):c.1108-2A>G rs398123411
NM_000487.5(ARSA):c.1108-3C>G rs1001100248
NM_000487.5(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.5(ARSA):c.1115G>A (p.Arg372Gln) rs74315477
NM_000487.5(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.5(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.5(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.5(ARSA):c.1195C>T (p.His399Tyr) rs199476376
NM_000487.5(ARSA):c.1210+1G>A rs80338820
NM_000487.5(ARSA):c.1210+1G>T rs80338820
NM_000487.5(ARSA):c.1222_1232del11 (p.Ser408Cysfs) rs1555900191
NM_000487.5(ARSA):c.1223_1231del9 (p.Ser408_Thr410del) rs765905826
NM_000487.5(ARSA):c.1264delC (p.Leu422Terfs) rs755635209
NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.5(ARSA):c.1323delC (p.Tyr441Terfs) rs1555900150
NM_000487.5(ARSA):c.1337delG (p.Gly446Valfs) rs750030142
NM_000487.5(ARSA):c.1344dup (p.Gly449Argfs) rs761555167
NM_000487.5(ARSA):c.135C>A (p.Ser45Arg) rs375493957
NM_000487.5(ARSA):c.1388delT (p.Leu463Argfs) rs1057517237
NM_000487.5(ARSA):c.1471T>G (p.Cys491Gly) rs199476388
NM_000487.5(ARSA):c.1489_1492dupCCCC (p.Arg498Profs) rs774153480
NM_000487.5(ARSA):c.1490_1492delCCC (p.Pro497del) rs774153480
NM_000487.5(ARSA):c.1492dupC (p.Arg498Profs) rs774153480
NM_000487.5(ARSA):c.185_186dup (p.Asp63Glnfs) rs1227301119
NM_000487.5(ARSA):c.195delC (p.Tyr65Terfs) rs398123414
NM_000487.5(ARSA):c.206_209delCTCT (p.Ser69Cysfs) rs1555901112
NM_000487.5(ARSA):c.211_212delTG (p.Cys71Hisfs) rs1057516288
NM_000487.5(ARSA):c.224+1G>A rs1555901108
NM_000487.5(ARSA):c.225-2A>G rs1555901083
NM_000487.5(ARSA):c.227_228insTA (p.Ala77Thrfs) rs1057516595
NM_000487.5(ARSA):c.240dupC (p.Gly81Argfs) rs786204599
NM_000487.5(ARSA):c.251C>T (p.Pro84Leu) rs6151411
NM_000487.5(ARSA):c.256C>T (p.Arg86Trp) rs199476352
NM_000487.5(ARSA):c.257G>T (p.Arg86Leu) rs74315458
NM_000487.5(ARSA):c.293C>T (p.Ser98Phe) rs74315456
NM_000487.5(ARSA):c.295dup (p.Arg99Profs) rs1555901056
NM_000487.5(ARSA):c.2T>C (p.Met1Thr) rs1555901170
NM_000487.5(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.5(ARSA):c.304delC (p.Leu102Cysfs) rs786204673
NM_000487.5(ARSA):c.398_409del12 (p.Glu133_Leu137delinsVal) rs1555901024
NM_000487.5(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.5(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.5(ARSA):c.418delC (p.His140Ilefs) rs745884435
NM_000487.5(ARSA):c.418dupC (p.His140Profs) rs745884435
NM_000487.5(ARSA):c.421C>T (p.Gln141Ter) rs1057516730
NM_000487.5(ARSA):c.465+1G>A rs80338815
NM_000487.5(ARSA):c.465+2T>A rs1555900989
NM_000487.5(ARSA):c.466-2A>G rs1057517044
NM_000487.5(ARSA):c.494dupC (p.Pro166Alafs) rs1057517346
NM_000487.5(ARSA):c.495_501del7 (p.Pro166Leufs) rs1057517429
NM_000487.5(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.5(ARSA):c.514G>A (p.Gly172Ser) rs74315271
NM_000487.5(ARSA):c.526C>T (p.Gln176Ter) rs762284875
NM_000487.5(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.5(ARSA):c.542dup (p.Leu183Thrfs) rs776748338
NM_000487.5(ARSA):c.545delC (p.Pro182Hisfs) rs1057516907
NM_000487.5(ARSA):c.604C>T (p.Arg202Cys) rs374482942
NM_000487.5(ARSA):c.608A>G (p.Tyr203Cys) rs199476345
NM_000487.5(ARSA):c.622delC (p.His208Metfs) rs1555900900
NM_000487.5(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.5(ARSA):c.674A>G (p.Tyr225Cys) rs527640350
NM_000487.5(ARSA):c.674_675dupAT (p.Ala226Metfs) rs1057516373
NM_000487.5(ARSA):c.684+2dup rs1555900843
NM_000487.5(ARSA):c.736C>T (p.Arg246Cys) rs74315470
NM_000487.5(ARSA):c.737G>A (p.Arg246His) rs199476366
NM_000487.5(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.5(ARSA):c.746T>C (p.Phe249Ser) rs199476384
NM_000487.5(ARSA):c.758dup (p.Met254Aspfs) rs74315270
NM_000487.5(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.5(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.5(ARSA):c.847G>T (p.Asp283Tyr) rs199476386
NM_000487.5(ARSA):c.868C>T (p.Arg290Cys) rs74315473
NM_000487.5(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000487.5(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.5(ARSA):c.883G>A (p.Gly295Ser) rs199476349
NM_000487.5(ARSA):c.891delC (p.Gly298Valfs) rs1057517073
NM_000487.5(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.5(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.5(ARSA):c.925dup (p.Glu309Glyfs) rs1555900623
NM_000487.5(ARSA):c.929delG (p.Gly310Alafs) rs1057516638
NM_000487.5(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000487.5(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.5(ARSA):c.979+1G>A rs754722529
NM_000487.5(ARSA):c.979_979+3delGGTC rs1057516887
NM_000487.5(ARSA):c.980-2A>C rs769152137
NM_000487.5(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.5(ARSA):c.991G>A (p.Glu331Lys) rs398123419
NM_000487.5(ARSA):c.991G>T (p.Glu331Ter) rs398123419

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