ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis type 6 by Invitae

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538 0.00001
NM_000046.5(ARSB):c.628T>C (p.Tyr210His) rs769313336 0.00001
NM_000046.5(ARSB):c.691-1G>A rs778868348 0.00001
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg) rs398123124 0.00001
NC_000005.9:g.(?_78135159)_(78135269_?)dup
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NC_000005.9:g.(?_78251098)_(78251345_?)dup
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe) rs756671977
NM_000046.5(ARSB):c.1140_1142+2del rs1747980506
NM_000046.5(ARSB):c.1214-1G>A
NM_000046.5(ARSB):c.1214-2A>T rs1554069808
NM_000046.5(ARSB):c.1289A>G (p.His430Arg) rs1171277553
NM_000046.5(ARSB):c.1438dup (p.Asp480fs) rs1167459660
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu) rs906245021
NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr)
NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu)
NM_000046.5(ARSB):c.158A>G (p.Asp53Gly) rs2112582627
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser) rs1554069655
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala) rs1378501017
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)
NM_000046.5(ARSB):c.206C>T (p.Thr69Met) rs1554032175
NM_000046.5(ARSB):c.244C>G (p.Leu82Val)
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
NM_000046.5(ARSB):c.283C>T (p.Arg95Trp) rs1201268402
NM_000046.5(ARSB):c.284G>T (p.Arg95Leu) rs118203942
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)
NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)
NM_000046.5(ARSB):c.350G>A (p.Cys117Tyr)
NM_000046.5(ARSB):c.441C>G (p.His147Gln) rs1752333074
NM_000046.5(ARSB):c.478C>G (p.Arg160Gly)
NM_000046.5(ARSB):c.499+2T>A
NM_000046.5(ARSB):c.534T>G (p.His178Gln)
NM_000046.5(ARSB):c.690+2T>G
NM_000046.5(ARSB):c.797A>G (p.Tyr266Cys)
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn) rs1554086368
NM_000046.5(ARSB):c.898+1G>A rs1751669303
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro) rs727503809
NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)

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