ClinVar Miner

List of variants in gene BBS12 reported as likely benign for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
NM_001178007.1(BBS12):c.-391C>T rs28642232
NM_152618.3(BBS12):c.*187dup rs386401352
NM_152618.3(BBS12):c.1011T>C (p.Val337=) rs762298486
NM_152618.3(BBS12):c.1185G>A (p.Leu395=) rs377611257
NM_152618.3(BBS12):c.1197C>T (p.His399=) rs764483162
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059
NM_152618.3(BBS12):c.1980G>A (p.Pro660=) rs778953866
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329
NM_152618.3(BBS12):c.21C>T (p.Val7=) rs754702110
NM_152618.3(BBS12):c.237C>T (p.Asn79=) rs373273487
NM_152618.3(BBS12):c.243T>C (p.Tyr81=) rs772942987
NM_152618.3(BBS12):c.60A>G (p.Ser20=) rs759975718
NM_152618.3(BBS12):c.63A>T (p.Ser21=) rs776279953
NM_152618.3(BBS12):c.66C>T (p.Phe22=) rs150546366
NM_152618.3(BBS12):c.75A>G (p.Thr25=) rs754811440
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198

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.