ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova and "pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova: Collection method of the submission from Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 87
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641 0.00005
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr) rs763184657 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.245del (p.Leu82fs) rs750845916 0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942 0.00001
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn) rs373739301 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.121A>T (p.Met41Leu) rs1283377907 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln) rs1199639828 0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser) rs975409254 0.00001
NM_000512.5(GALNS):c.898+1G>C rs761850746 0.00001
NM_000046.5(ARSB):c.108_120del (p.Ser37fs) rs1028653411
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.1142+2T>A rs781510986
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys) rs1554074132
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.237_243del (p.Val80fs) rs1554032134
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter) rs1554032094
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter) rs1554086414
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter) rs1426905479
NM_000512.5(GALNS):c.1290_1291del (p.His430fs) rs2142992359
NM_000512.5(GALNS):c.143T>G (p.Val48Gly) rs191519947
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu) rs1348149236
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly) rs118204441
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu) rs727503946
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.347G>T (p.Gly116Val) rs1966945369
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.423-1G>A rs2143002474
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976
NM_000512.5(GALNS):c.77dup (p.Ala27fs) rs2143013573
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser) rs1465096387

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