ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 6 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641 0.00005
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.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.691-1G>A rs778868348 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374 0.00001
NC_000005.9:g.(78135250_78181406)_(78181651_78251117)dup
NM_000046.5(ARSB):c.116_123del (p.Ala39fs) rs1554032243
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214-2A>G rs1554069808
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter) rs1355071930
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter) rs1209412483
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter) rs771113472
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del) rs969231209
NM_000046.5(ARSB):c.312+2T>G
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
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.765T>A (p.Tyr255Ter) rs1554086414

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.