ClinVar Miner

List of variants reported as benign for Mucopolysaccharidosis type 6

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000046.3(ARSB):c.-840_-839dup rs1255033691 0.98775
NM_000046.4(ARSB):c.-302A>G rs163127 0.94480
NM_000046.3(ARSB):c.-1178A>G rs163126 0.84841
NM_000046.5(ARSB):c.*1302G>T rs754566 0.53627
NM_000046.5(ARSB):c.*2022T>G rs7704939 0.43898
NM_000046.5(ARSB):c.1143-27A>C rs25415 0.35324
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_000046.5(ARSB):c.313-26T>C rs3733895 0.30072
NM_000046.5(ARSB):c.*1257A>C rs754567 0.28549
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_000046.5(ARSB):c.691-22T>C rs6870443 0.13972
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_000046.5(ARSB):c.*3181T>G rs11750774 0.09828
NM_000046.5(ARSB):c.*1469C>T rs55710452 0.06599
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05483
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003 0.04998
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_000046.5(ARSB):c.*60G>A rs2173012 0.03683
NM_000046.5(ARSB):c.*202A>G rs73770019 0.03289
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924 0.01223
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000046.5(ARSB):c.*2859T>C rs116826065 0.00988
NM_000046.5(ARSB):c.*2654A>G rs147170505 0.00961
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029 0.00947
NM_000046.5(ARSB):c.456G>T (p.Arg152=) rs140747158 0.00106
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977 0.00106
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667 0.00088
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603 0.00082
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805 0.00061
NM_000046.5(ARSB):c.750A>G (p.Glu250=) rs200985327 0.00015
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00010
NM_000046.5(ARSB):c.313-12T>C rs574816959 0.00001
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.5(ARSB):c.*2975G>T rs3088247
NM_000046.5(ARSB):c.1081G>T (p.Ala361Ser)
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1337-15del
NM_000046.5(ARSB):c.312+15del
NM_000046.5(ARSB):c.690+9del rs2112513488

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