ClinVar Miner

List of variants reported as likely benign for Krabbe disease due to saposin A deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042465.2(PSAP):c.-130T>C rs12261323 0.14433
NM_002778.4(PSAP):c.*122C>G rs113284884 0.00572
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174 0.00484
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573 0.00266
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998 0.00051
NM_002778.4(PSAP):c.-29C>T rs201780377 0.00035
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) rs529776324 0.00004

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.