ClinVar Miner

List of variants in gene ARSB reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
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.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
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.1601A>C (p.Ter534Ser) rs1554069655
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)

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.