ClinVar Miner

List of variants in gene BBS1 reported as uncertain significance for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg)
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
NM_024649.5(BBS1):c.230T>C (p.Met77Thr)
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024649.5(BBS1):c.432+13C>T rs759287238
NM_024649.5(BBS1):c.432+5A>G
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)
NM_024649.5(BBS1):c.592-7_592-5del
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479

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.