ClinVar Miner

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

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Gene type:
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Total variants: 101
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HGVS dbSNP
NM_000487.6(ARSA):c.*1012C>T rs886057650
NM_000487.6(ARSA):c.*103C>T rs146160737
NM_000487.6(ARSA):c.*1062dup rs763817529
NM_000487.6(ARSA):c.*1206G>T rs867069706
NM_000487.6(ARSA):c.*1212T>G rs868201030
NM_000487.6(ARSA):c.*1213T>G rs886057649
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.*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.*1476G>A rs8142531
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.*1629A>C rs886057644
NM_000487.6(ARSA):c.*191C>G rs537362532
NM_000487.6(ARSA):c.*1987G>A rs886057643
NM_000487.6(ARSA):c.*2023G>C rs886057642
NM_000487.6(ARSA):c.*2088_*2090CCT[1] rs886057641
NM_000487.6(ARSA):c.*2205A>T rs886057640
NM_000487.6(ARSA):c.*2259G>A rs187444411
NM_000487.6(ARSA):c.*2301T>C rs534387866
NM_000487.6(ARSA):c.*2316C>T rs117951552
NM_000487.6(ARSA):c.*2374C>A rs11704557
NM_000487.6(ARSA):c.*293C>T rs886057654
NM_000487.6(ARSA):c.*332C>T rs780413907
NM_000487.6(ARSA):c.*342A>G rs182635438
NM_000487.6(ARSA):c.*503A>G rs141494339
NM_000487.6(ARSA):c.*625G>A rs778826401
NM_000487.6(ARSA):c.*643T>C rs886057653
NM_000487.6(ARSA):c.*729C>T rs191335867
NM_000487.6(ARSA):c.*794C>T rs886057652
NM_000487.6(ARSA):c.*874T>C rs886057651
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.-131G>A rs551316995
NM_000487.6(ARSA):c.-136C>G rs6151408
NM_000487.6(ARSA):c.-142G>A rs886057660
NM_000487.6(ARSA):c.-159C>T rs6151407
NM_000487.6(ARSA):c.-15A>G rs909454884
NM_000487.6(ARSA):c.-20G>C rs886057659
NM_000487.6(ARSA):c.-224C>G rs546035074
NM_000487.6(ARSA):c.-330C>T rs558023516
NM_000487.6(ARSA):c.-355G>T rs886057661
NM_000487.6(ARSA):c.-35_-8del rs759081183
NM_000487.6(ARSA):c.-362G>C rs886057662
NM_000487.6(ARSA):c.-88G>A rs562486733
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.109_126dup (p.Asp37_Gly42dup) rs1555901139
NM_000487.6(ARSA):c.1108-3C>G rs1001100248
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477
NM_000487.6(ARSA):c.1157G>C (p.Arg386Pro)
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376
NM_000487.6(ARSA):c.1211-15T>C rs374150980
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg) rs139073195
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388
NM_000487.6(ARSA):c.1472G>A (p.Cys491Tyr) rs1060499585
NM_000487.6(ARSA):c.1490_1492del (p.Pro497del) rs774153480
NM_000487.6(ARSA):c.225-5C>T rs192013394
NM_000487.6(ARSA):c.231_232delinsTT (p.Leu78Phe)
NM_000487.6(ARSA):c.247C>T (p.Leu83Phe)
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu) rs74315458
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe) rs886057658
NM_000487.6(ARSA):c.355C>G (p.Leu119Val)
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657
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.449C>G (p.Pro150Arg)
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464
NM_000487.6(ARSA):c.499G>T (p.Ala167Ser)
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser) rs74315271
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys) rs374482942
NM_000487.6(ARSA):c.610A>G (p.Met204Val) rs1569080377
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.6(ARSA):c.679T>C (p.Ser227Pro) rs1555900849
NM_000487.6(ARSA):c.684+2dup rs1555900843
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386
NM_000487.6(ARSA):c.867G>A (p.Met289Ile)
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly) rs794727704
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln)
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.931G>A (p.Gly311Ser) rs74315459
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419

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