ClinVar Miner

List of variants in gene ARSB studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala) rs769542268 0.00009
NM_000046.5(ARSB):c.658A>G (p.Ile220Val) rs202130413 0.00005
NM_000046.5(ARSB):c.704A>G (p.Tyr235Cys) rs745804096 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827 0.00003
NM_000046.5(ARSB):c.1453C>G (p.His485Asp) rs751829762 0.00001
NM_000046.5(ARSB):c.539G>A (p.Arg180His) rs139788949 0.00001
NM_000046.5(ARSB):c.1190C>T (p.Pro397Leu)
NM_000046.5(ARSB):c.1559G>A (p.Arg520His)
NM_000046.5(ARSB):c.523T>C (p.Tyr175His)
NM_000046.5(ARSB):c.556G>A (p.Ala186Thr)
NM_000046.5(ARSB):c.730C>A (p.Pro244Thr) rs1751681202
NM_000046.5(ARSB):c.925G>A (p.Gly309Ser)
NM_000046.5(ARSB):c.962T>G (p.Leu321Arg)

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.