ClinVar Miner

List of variants in gene BBS2 reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_031885.4(BBS2):c.1437T>C (p.Pro479=) rs747415803
NM_031885.4(BBS2):c.1885G>A (p.Glu629Lys) rs746505864
NM_031885.4(BBS2):c.1890T>C (p.Asp630=) rs1176715641
NM_031885.4(BBS2):c.1894C>T (p.Arg632Cys) rs200021475
NM_031885.4(BBS2):c.642C>T (p.Gly214=) rs141563594
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.4(BBS2):c.783A>C (p.Ile261=) rs183982328
NM_031885.4(BBS2):c.995G>A (p.Ser332Asn) rs199655331
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp)
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)
NM_031885.5(BBS2):c.1982G>A (p.Arg661His)
NM_031885.5(BBS2):c.327G>A rs770497817
NM_031885.5(BBS2):c.983T>A (p.Leu328His)

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.