ClinVar Miner

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

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ClinVar version:
Total variants: 84
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HGVS dbSNP
NM_000487.5(ARSA):c.*1012C>T rs886057650
NM_000487.5(ARSA):c.*103C>T rs146160737
NM_000487.5(ARSA):c.*1062dupA rs763817529
NM_000487.5(ARSA):c.*1206G>T rs867069706
NM_000487.5(ARSA):c.*1212T>G rs868201030
NM_000487.5(ARSA):c.*1213T>G rs886057649
NM_000487.5(ARSA):c.*1238T>G rs6010033
NM_000487.5(ARSA):c.*125C>G rs886057656
NM_000487.5(ARSA):c.*1267C>T rs886057648
NM_000487.5(ARSA):c.*130C>A rs886057655
NM_000487.5(ARSA):c.*1372G>A rs190478606
NM_000487.5(ARSA):c.*1372G>T rs190478606
NM_000487.5(ARSA):c.*1404dupT rs746677403
NM_000487.5(ARSA):c.*1475C>G rs184515588
NM_000487.5(ARSA):c.*1476G>A rs8142531
NM_000487.5(ARSA):c.*1576A>C rs886057647
NM_000487.5(ARSA):c.*1617G>A rs886057646
NM_000487.5(ARSA):c.*1627G>C rs886057645
NM_000487.5(ARSA):c.*1629A>C rs886057644
NM_000487.5(ARSA):c.*191C>G rs537362532
NM_000487.5(ARSA):c.*1987G>A rs886057643
NM_000487.5(ARSA):c.*2023G>C rs886057642
NM_000487.5(ARSA):c.*2091_*2093delCCT rs886057641
NM_000487.5(ARSA):c.*2205A>T rs886057640
NM_000487.5(ARSA):c.*2259G>A rs187444411
NM_000487.5(ARSA):c.*2301T>C rs534387866
NM_000487.5(ARSA):c.*2316C>T rs117951552
NM_000487.5(ARSA):c.*2374C>A rs11704557
NM_000487.5(ARSA):c.*293C>T rs886057654
NM_000487.5(ARSA):c.*332C>T rs780413907
NM_000487.5(ARSA):c.*342A>G rs182635438
NM_000487.5(ARSA):c.*503A>G rs141494339
NM_000487.5(ARSA):c.*625G>A rs778826401
NM_000487.5(ARSA):c.*643T>C rs886057653
NM_000487.5(ARSA):c.*729C>T rs191335867
NM_000487.5(ARSA):c.*794C>T rs886057652
NM_000487.5(ARSA):c.*874T>C rs886057651
NM_000487.5(ARSA):c.-131G>A rs551316995
NM_000487.5(ARSA):c.-136C>G rs6151408
NM_000487.5(ARSA):c.-142G>A rs886057660
NM_000487.5(ARSA):c.-159C>T rs6151407
NM_000487.5(ARSA):c.-20G>C rs886057659
NM_000487.5(ARSA):c.-224C>G rs546035074
NM_000487.5(ARSA):c.-330C>T rs558023516
NM_000487.5(ARSA):c.-355G>T rs886057661
NM_000487.5(ARSA):c.-362G>C rs886057662
NM_000487.5(ARSA):c.-88G>A rs562486733
NM_000487.5(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.5(ARSA):c.1211-15T>C rs374150980
NM_000487.5(ARSA):c.1258A>C (p.Ser420Arg) rs139073195
NM_000487.5(ARSA):c.1334G>T (p.Gly445Val) rs540762357
NM_000487.5(ARSA):c.1447G>A (p.Glu483Lys) rs148352371
NM_000487.5(ARSA):c.225-5C>T rs192013394
NM_000487.5(ARSA):c.251C>T (p.Pro84Leu) rs6151411
NM_000487.5(ARSA):c.25C>T (p.Leu9Phe) rs886057658
NM_000487.5(ARSA):c.369C>T (p.Ala123=) rs886057657
NM_000487.5(ARSA):c.470C>T (p.Pro157Leu) rs74315464
NM_000487.5(ARSA):c.624T>C (p.His208=) rs113990230
NM_000487.5(ARSA):c.659C>T (p.Pro220Leu) rs201251634
NM_000487.5(ARSA):c.663C>T (p.Phe221=) rs754484249
NM_002778.3(PSAP):c.*113C>T rs544214520
NM_002778.3(PSAP):c.*859C>T rs886047149
NM_002778.3(PSAP):c.*935A>G rs886047148
NM_002778.3(PSAP):c.*9A>G rs376628499
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.-99T>G rs886047156
NM_002778.3(PSAP):c.1000A>T (p.Thr334Ser) rs749663645
NM_002778.3(PSAP):c.1088C>T (p.Thr363Met) rs140066253
NM_002778.3(PSAP):c.112A>T (p.Thr38Ser) rs535525554
NM_002778.3(PSAP):c.1172C>T (p.Thr391Met) rs202125074
NM_002778.3(PSAP):c.1258G>A (p.Asp420Asn) rs760621775
NM_002778.3(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.3(PSAP):c.1432-4A>G rs775086571
NM_002778.3(PSAP):c.1456C>T (p.His486Tyr) rs749660716
NM_002778.3(PSAP):c.250-12G>A rs886047152
NM_002778.3(PSAP):c.380G>A (p.Arg127His) rs886047151
NM_002778.3(PSAP):c.40+12G>A rs886047153
NM_002778.3(PSAP):c.557G>A (p.Arg186His) rs138880818
NM_002778.3(PSAP):c.798G>A (p.Ala266=) rs199672678
NM_002778.3(PSAP):c.911A>G (p.Lys304Arg) rs757553906
NM_002778.3(PSAP):c.923C>T (p.Pro308Leu) rs886047150
NM_002778.3(PSAP):c.94T>G (p.Trp32Gly) rs200008050

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