List of variants in gene ARSA reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)	rs148352371	0.00245
NM_000487.6(ARSA):c.605G>A (p.Arg202His)	rs201794808	0.00019
NM_000487.6(ARSA):c.-88G>A	rs562486733	0.00011
NM_000487.6(ARSA):c.728G>A (p.Arg243His)	rs142142638	0.00008
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val)	rs540762357	0.00007
NM_000487.6(ARSA):c.325G>A (p.Val109Met)	rs746259972	0.00004
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser)	rs377717242	0.00003
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser)	rs74315271	0.00003
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln)	rs573456864	0.00003
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)	rs398123419	0.00002
NM_000487.6(ARSA):c.1522C>T (p.His508Tyr)	rs1278738755	0.00001
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)	rs6151428
NM_000487.6(ARSA):c.296G>C (p.Arg99Pro)	rs759295985

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.