ClinVar Miner

List of variants in gene ADSL reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.358-4G>A rs113199851 0.01950
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158 0.00024
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500 0.00001
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986

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.