ClinVar Miner

List of variants in gene ARSB reported as benign for Mucopolysaccharidosis type 6

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
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.*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.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.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.1337-15del
NM_000046.5(ARSB):c.690+9del rs2112513488

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.