ClinVar Miner

List of variants reported as likely benign for adenylosuccinate lyase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000026.2(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.3(ADSL):c.1350T>C (p.Thr450=) rs200300396
NM_000026.3(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.3(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.3(ADSL):c.358-4G>A rs113199851
NM_000026.3(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.3(ADSL):c.702-7T>C rs201509960
NM_000026.3(ADSL):c.72G>A (p.Pro24=) rs1279175740
NM_000026.3(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.3(ADSL):c.801C>T (p.Thr267=) rs369069575
NM_000026.3(ADSL):c.843C>T (p.Pro281=) rs1555908183
NM_000026.3(ADSL):c.870T>C (p.Ser290=) rs146890981
NM_000026.3(ADSL):c.895A>G (p.Met299Val) rs34396910

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.