ClinVar Miner

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

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ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.*919A>G rs5770805 0.78412
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000487.6(ARSA):c.*682G>C rs7288338 0.41670
NM_000487.6(ARSA):c.*855G>A rs7288050 0.41126
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_000487.6(ARSA):c.*635G>A rs5770953 0.29302
NM_000487.6(ARSA):c.*1522C>A rs6009939 0.26325
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_000487.6(ARSA):c.*741C>T rs8142033 0.13503
NM_000487.6(ARSA):c.*340T>A rs5741862 0.11788
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_000487.6(ARSA):c.-345G>C rs6151406 0.09453
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_000487.6(ARSA):c.*1570C>T rs79823940 0.07507
NM_000487.6(ARSA):c.*1369C>T rs76841085 0.07487
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412 0.05937
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_000487.6(ARSA):c.*1746G>A rs73172277 0.04494
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_000487.6(ARSA):c.*1076A>T rs114833506 0.02807
NM_000487.6(ARSA):c.*1769A>G rs56788262 0.02807
NM_000487.6(ARSA):c.-136C>G rs6151408 0.02754
NM_000487.6(ARSA):c.*2374C>A rs11704557 0.02731
NM_000487.6(ARSA):c.*503A>G rs141494339 0.02726
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230 0.01000
NM_002778.3(PSAP):c.-65C>T rs145948209 0.00785
NM_000487.6(ARSA):c.*992G>A rs376910590 0.00717
NM_000487.6(ARSA):c.-330C>T rs558023516 0.00504
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_001042465.2(PSAP):c.-118G>A rs28365838 0.00331
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_000487.6(ARSA):c.*2259G>A rs187444411 0.00289
NM_000487.6(ARSA):c.*191C>G rs537362532 0.00283
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634 0.00261
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_000487.6(ARSA):c.-224C>G rs546035074 0.00197
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_022124.6(CDH23):c.*478G>C rs564392413 0.00166
NM_000487.6(ARSA):c.*332C>T rs780413907 0.00115
NM_000487.6(ARSA):c.*729C>T rs191335867 0.00099
NM_000487.6(ARSA):c.*1213T>G rs886057649 0.00074
NM_000487.6(ARSA):c.-131G>A rs551316995 0.00061
NM_000487.6(ARSA):c.*103C>T rs146160737 0.00060
NM_000487.6(ARSA):c.*1969C>A rs556167510 0.00055
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_000487.6(ARSA):c.-159C>T rs6151407 0.00051
NM_000487.6(ARSA):c.*1212T>G rs868201030 0.00047
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000487.6(ARSA):c.*2316C>T rs117951552 0.00039
NM_000487.6(ARSA):c.*2037C>T rs568146327 0.00034
NM_000487.6(ARSA):c.*15G>A rs377187248 0.00031
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_000487.6(ARSA):c.-142G>A rs886057660 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_000487.6(ARSA):c.*2301T>C rs534387866 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_000487.6(ARSA):c.*1207T>G rs985590155 0.00024
NM_000487.6(ARSA):c.*342A>G rs182635438 0.00023
NM_000487.6(ARSA):c.*2368A>T rs570115432 0.00022
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_000487.6(ARSA):c.*527A>G rs898694289 0.00021
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg) rs139073195 0.00013
NM_000487.6(ARSA):c.*625G>A rs778826401 0.00012
NM_000487.6(ARSA):c.*1171A>G rs918518184 0.00011
NM_000487.6(ARSA):c.-88G>A rs562486733 0.00011
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
NM_022124.6(CDH23):c.*80G>A rs75715348 0.00011
NM_000487.6(ARSA):c.*794C>T rs886057652 0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000487.6(ARSA):c.*1987G>A rs886057643 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_000487.6(ARSA):c.728G>A (p.Arg243His) rs142142638 0.00008
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_000487.6(ARSA):c.225-5C>T rs192013394 0.00006
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328 0.00006
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_000487.6(ARSA):c.*380G>A rs1249327412 0.00004
NM_000487.6(ARSA):c.-223G>T rs752129372 0.00004
NM_002778.3(PSAP):c.-50G>T rs886047154 0.00004
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) rs571773332 0.00004
NM_000487.6(ARSA):c.*293C>T rs886057654 0.00003
NM_000487.6(ARSA):c.*479C>G rs565093599 0.00003
NM_000487.6(ARSA):c.-355G>T rs886057661 0.00003
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser) rs377717242 0.00003
NM_000487.6(ARSA):c.225-4G>A rs372937480 0.00003
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657 0.00003
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00003
NM_000487.6(ARSA):c.*1714G>A rs183937648 0.00002
NM_000487.6(ARSA):c.*466C>T rs1181265537 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.*10G>A rs772710219 0.00001
NM_000487.6(ARSA):c.*1476G>A rs8142531 0.00001
NM_000487.6(ARSA):c.*1629A>C rs886057644 0.00001
NM_000487.6(ARSA):c.*1712C>T rs1330240384 0.00001
NM_000487.6(ARSA):c.1211-15T>C rs374150980 0.00001
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe) rs886057658 0.00001
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_022124.6(CDH23):c.*439C>T rs140312023 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_000487.6(ARSA):c.*1012C>T rs886057650
NM_000487.6(ARSA):c.*1049T>A rs868511268
NM_000487.6(ARSA):c.*1062dup rs763817529
NM_000487.6(ARSA):c.*1073G>T rs185955658
NM_000487.6(ARSA):c.*1157G>T rs775298785
NM_000487.6(ARSA):c.*1206G>T rs867069706
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.*127A>T rs977218325
NM_000487.6(ARSA):c.*130C>A rs886057655
NM_000487.6(ARSA):c.*1351C>G rs131717
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.*1477C>T rs2082619608
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.*165G>A rs144366706
NM_000487.6(ARSA):c.*1825C>T rs2082615571
NM_000487.6(ARSA):c.*2023G>C rs886057642
NM_000487.6(ARSA):c.*2065C>T rs776085194
NM_000487.6(ARSA):c.*2088CCT[1] rs886057641
NM_000487.6(ARSA):c.*2134C>A rs911625206
NM_000487.6(ARSA):c.*2205A>T rs886057640
NM_000487.6(ARSA):c.*2283A>G rs2082610056
NM_000487.6(ARSA):c.*389A>G rs547501508
NM_000487.6(ARSA):c.*413T>G rs986551305
NM_000487.6(ARSA):c.*624G>T rs2082632282
NM_000487.6(ARSA):c.*643T>C rs886057653
NM_000487.6(ARSA):c.*777C>G rs115593886
NM_000487.6(ARSA):c.*874T>C rs886057651
NM_000487.6(ARSA):c.-20G>C rs886057659
NM_000487.6(ARSA):c.-343C>T rs1028447908
NM_000487.6(ARSA):c.-362G>C rs886057662
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1210+13C>T rs6151426
NM_000487.6(ARSA):c.1434G>C (p.Gln478His) rs769169905
NM_000487.6(ARSA):c.151C>G (p.Leu51Val) rs1348625953
NM_000487.6(ARSA):c.296G>A (p.Arg99Gln) rs759295985
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.778G>T (p.Val260Leu) rs2082674602
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_002778.3(PSAP):c.-33T>C rs143987544
NM_002778.3(PSAP):c.-56A>G rs534586960
NM_002778.3(PSAP):c.-62A>G rs886047155
NM_002778.3(PSAP):c.-99T>G rs886047156
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn) rs760621775
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9739-12G>A rs200638595

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