ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 6 by Fulgent Genetics, Fulgent Genetics

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780 0.00045
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser) rs375647920 0.00009
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00007
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys) rs202134230 0.00007
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 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.1350G>C (p.Trp450Cys) rs555785323 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.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000046.5(ARSB):c.1054G>A (p.Asp352Asn)
NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro) rs1554079284
NM_000046.5(ARSB):c.107_129del (p.Gly36fs)
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1143-2A>T
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.1268C>A (p.Ser423Ter)
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg) rs1057520739
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro) rs774358117
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg) rs1554032090
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs) rs2530607480
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu) rs1435155976
NM_000046.5(ARSB):c.405del (p.Ala136fs)
NM_000046.5(ARSB):c.500-2A>G
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.791_798dup (p.Ala267fs)
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223

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