ClinVar Miner

List of variants reported as likely benign for Metachromatic leukodystrophy by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_000487.6(ARSA):c.*1076A>T rs114833506
NM_000487.6(ARSA):c.*1369C>T rs76841085
NM_000487.6(ARSA):c.*1570C>T rs79823940
NM_000487.6(ARSA):c.*1746G>A rs73172277
NM_000487.6(ARSA):c.*1769A>G rs56788262
NM_000487.6(ARSA):c.*340T>A rs5741862
NM_000487.6(ARSA):c.*741C>T rs8142033
NM_000487.6(ARSA):c.*777C>G rs115593886
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.-345G>C rs6151406
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_001042465.2(PSAP):c.-118G>A rs28365838
NM_001042465.3(PSAP):c.*73C>T rs541692197
NM_001042465.3(PSAP):c.-22G>C rs569841336
NM_001042465.3(PSAP):c.1021A>G (p.Ile341Val) rs544300820
NM_001042465.3(PSAP):c.1270C>T (p.Arg424Cys) rs529719024
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.570G>T (p.Gln190His) rs142272618
NM_002778.3(PSAP):c.-33T>C rs143987544
NM_002778.3(PSAP):c.-65C>T rs145948209
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.-10A>G rs76455588
NM_002778.4(PSAP):c.-28A>C rs375720661
NM_002778.4(PSAP):c.-29C>T rs201780377
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594
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.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_022124.6(CDH23):c.*104G>C rs377312107
NM_022124.6(CDH23):c.*141G>A rs535544696
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.*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.9501G>A (p.Thr3167=) rs144906721
NM_022124.6(CDH23):c.9510+13C>T rs183692794
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.9903C>T (p.Pro3301=) rs55717455
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933

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