ClinVar Miner

List of variants studied for BBS12-related ciliopathy by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met) rs372102223 0.00016
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter) rs1194574169 0.00001
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1972C>T (p.Gln658Ter) rs2150737953
NM_152618.3(BBS12):c.683del (p.Gln228fs) rs2150736424
NM_152618.3(BBS12):c.695_731del (p.Ile232fs)

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.