ClinVar Miner

List of variants in gene ARSA reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1107+9G>A rs768146306
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957
NM_000487.6(ARSA):c.1378C>G (p.Gln460Glu)
NM_000487.6(ARSA):c.1441C>T (p.Arg481Trp)
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)
NM_000487.6(ARSA):c.343G>A (p.Ala115Thr)
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg)
NM_000487.6(ARSA):c.610A>G (p.Met204Val) rs1569080377
NM_000487.6(ARSA):c.684+7G>A
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.937C>A (p.Arg313=) rs551472773
NM_000487.6(ARSA):c.971T>C (p.Ile324Thr)

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.