ClinVar Miner

List of variants studied for Metachromatic leukodystrophy by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 176
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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.*1076A>T rs114833506
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.*1351C>G rs131717
NM_000487.6(ARSA):c.*1369C>T rs76841085
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.*1522C>A rs6009939
NM_000487.6(ARSA):c.*1570C>T rs79823940
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.*1746G>A rs73172277
NM_000487.6(ARSA):c.*1769A>G rs56788262
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.*340T>A rs5741862
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.*635G>A rs5770953
NM_000487.6(ARSA):c.*643T>C rs886057653
NM_000487.6(ARSA):c.*682G>C rs7288338
NM_000487.6(ARSA):c.*729C>T rs191335867
NM_000487.6(ARSA):c.*741C>T rs8142033
NM_000487.6(ARSA):c.*777C>G rs115593886
NM_000487.6(ARSA):c.*794C>T rs886057652
NM_000487.6(ARSA):c.*855G>A rs7288050
NM_000487.6(ARSA):c.*874T>C rs886057651
NM_000487.6(ARSA):c.*919A>G rs5770805
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.-20G>C rs886057659
NM_000487.6(ARSA):c.-224C>G rs546035074
NM_000487.6(ARSA):c.-330C>T rs558023516
NM_000487.6(ARSA):c.-345G>C rs6151406
NM_000487.6(ARSA):c.-355G>T rs886057661
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.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
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.1447G>A (p.Glu483Lys) rs148352371
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.6(ARSA):c.225-5C>T rs192013394
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe) rs886057658
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415
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.883G>A (p.Gly295Ser) rs199476349
NM_001042465.2(PSAP):c.-118G>A rs28365838
NM_001042465.3(PSAP):c.*113C>T rs544214520
NM_001042465.3(PSAP):c.*73C>T rs541692197
NM_001042465.3(PSAP):c.*859C>T rs886047149
NM_001042465.3(PSAP):c.*9A>G rs376628499
NM_001042465.3(PSAP):c.-22G>C rs569841336
NM_001042465.3(PSAP):c.1009A>T (p.Thr337Ser) rs749663645
NM_001042465.3(PSAP):c.1021A>G (p.Ile341Val) rs544300820
NM_001042465.3(PSAP):c.1097C>T (p.Thr366Met) rs140066253
NM_001042465.3(PSAP):c.112A>T (p.Thr38Ser) rs535525554
NM_001042465.3(PSAP):c.1267G>A (p.Asp423Asn) rs760621775
NM_001042465.3(PSAP):c.1270C>T (p.Arg424Cys) rs529719024
NM_001042465.3(PSAP):c.1441-4A>G rs775086571
NM_001042465.3(PSAP):c.167C>G (p.Pro56Arg) rs571773332
NM_001042465.3(PSAP):c.227T>A (p.Met76Lys) rs377024801
NM_001042465.3(PSAP):c.250-12G>A rs886047152
NM_001042465.3(PSAP):c.380G>A (p.Arg127His) rs886047151
NM_001042465.3(PSAP):c.40+12G>A rs886047153
NM_001042465.3(PSAP):c.557G>A (p.Arg186His) rs138880818
NM_001042465.3(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_001042465.3(PSAP):c.807G>A (p.Ala269=) rs199672678
NM_001042465.3(PSAP):c.920A>G (p.Lys307Arg) rs757553906
NM_002778.3(PSAP):c.-33T>C rs143987544
NM_002778.3(PSAP):c.-50G>T rs886047154
NM_002778.3(PSAP):c.-56A>G rs534586960
NM_002778.3(PSAP):c.-62A>G rs886047155
NM_002778.3(PSAP):c.-65C>T rs145948209
NM_002778.3(PSAP):c.-99T>G rs886047156
NM_002778.4(PSAP):c.*122C>G rs113284884
NM_002778.4(PSAP):c.*276G>A rs547409137
NM_002778.4(PSAP):c.*574G>C rs549402343
NM_002778.4(PSAP):c.*775G>A rs79662404
NM_002778.4(PSAP):c.*891G>A rs7869
NM_002778.4(PSAP):c.*935A>G rs886047148
NM_002778.4(PSAP):c.-10A>G rs76455588
NM_002778.4(PSAP):c.-28A>C rs375720661
NM_002778.4(PSAP):c.-29C>T rs201780377
NM_002778.4(PSAP):c.-4C>T rs2070188
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1350+5G>A rs11000016
NM_002778.4(PSAP):c.1351-14A>G rs4747203
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) rs114389264
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900
NM_002778.4(PSAP):c.174+9C>T rs141133813
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178
NM_002778.4(PSAP):c.41-13G>C rs138010978
NM_002778.4(PSAP):c.577-10T>C rs185892516
NM_002778.4(PSAP):c.714C>G (p.Ala238=) rs141199649
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) rs886047150
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) rs200008050
NM_022124.6(CDH23):c.*104G>C rs377312107
NM_022124.6(CDH23):c.*141G>A rs535544696
NM_022124.6(CDH23):c.*204A>G rs2290022
NM_022124.6(CDH23):c.*349A>G rs1867978
NM_022124.6(CDH23):c.*361C>A rs115033851
NM_022124.6(CDH23):c.*430A>T rs562268606
NM_022124.6(CDH23):c.*434G>A rs529522213
NM_022124.6(CDH23):c.*439C>T rs140312023
NM_022124.6(CDH23):c.*478G>C rs564392413
NM_022124.6(CDH23):c.*510G>A rs1054635
NM_022124.6(CDH23):c.*515C>A rs16929375
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.*68G>C rs527311705
NM_022124.6(CDH23):c.*80G>A rs75715348
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.6(CDH23):c.9319+11G>A rs11000013
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721
NM_022124.6(CDH23):c.9510+13C>T rs183692794
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933

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