ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 6 by Baylor Genetics

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00008
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000046.5(ARSB):c.1336+2T>G rs768012515 0.00003
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000046.5(ARSB):c.1336+1G>A rs376233975 0.00001
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser) rs1465993279 0.00001
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter) rs200188234 0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 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.499G>A (p.Gly167Arg) rs1554087999 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu) rs1280123243 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
NM_000046.5(ARSB):c.1088del (p.Gly363fs)
NM_000046.5(ARSB):c.108_120del (p.Ser37fs) rs1028653411
NM_000046.5(ARSB):c.113del (p.Gly38fs) rs1349838988
NM_000046.5(ARSB):c.1142+1G>T rs746396210
NM_000046.5(ARSB):c.1143-1G>A
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1214-2A>T rs1554069808
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) rs766772376
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) rs1355071930
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1337-1G>C
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro) rs774358117
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)
NM_000046.5(ARSB):c.1558dup (p.Arg520fs)
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.173del (p.Asn58fs) rs1180759765
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.275C>A (p.Thr92Lys) rs751010538
NM_000046.5(ARSB):c.312+2T>G
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
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.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.659del (p.Ile220fs)
NM_000046.5(ARSB):c.690+2T>C
NM_000046.5(ARSB):c.694_695del (p.Leu232fs)
NM_000046.5(ARSB):c.743del (p.Pro248fs) rs431905494
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.785dup (p.Asn262fs) rs749015246
NM_000046.5(ARSB):c.789del (p.Arg263fs)
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.898+1G>A rs1751669303
NM_000046.5(ARSB):c.898+1G>T
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)

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