ClinVar Miner

List of variants reported as uncertain significance for Metachromatic leukodystrophy by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.-330C>T rs558023516 0.00504
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
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.-224C>G rs546035074 0.00197
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_000487.6(ARSA):c.-159C>T rs6151407 0.00051
NM_000487.6(ARSA):c.*1212T>G rs868201030 0.00047
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_000487.6(ARSA):c.-142G>A rs886057660 0.00029
NM_000487.6(ARSA):c.*2301T>C rs534387866 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.*527A>G rs898694289 0.00021
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_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_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_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_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.*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.*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.*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.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.778G>T (p.Val260Leu) rs2082674602
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
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

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