ClinVar Miner

List of variants reported as likely pathogenic for Spongy degeneration of central nervous system by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.4(ASPA):c.3G>T (p.Met1Ile) rs1597422213
NM_000049.4(ASPA):c.609del (p.Asp204fs) rs1597439149

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.