ClinVar Miner

List of variants in gene CWF19L1 reported as pathogenic for cerebellar disorder

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018294.6(CWF19L1):c.964+1G>A rs587780326 0.00007
NM_018294.6(CWF19L1):c.1070G>T (p.Gly357Val)
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter) rs1846512047
NM_018294.6(CWF19L1):c.1375-2A>G
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter) rs2134307362
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter) rs1589625941
NM_018294.6(CWF19L1):c.708+294_1044+1540del
NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter) rs879255653

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.