ClinVar Miner

List of variants studied for bardet-biedl syndrome 21

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter) rs751922029
NM_177965.4(CFAP418):c.240del (p.Ser81fs) rs1587357327
NM_177965.4(CFAP418):c.304A>T (p.Lys102Ter) rs766087213
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136
NM_177965.4(CFAP418):c.533C>T (p.Ala178Val) rs375314973

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.