ClinVar Miner

List of variants in gene BBS2 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.3(BBS2):c.-225C>T rs117744577
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_031885.4(BBS2):c.*13C>T rs141170836
NM_031885.4(BBS2):c.-137C>G rs77438708
NM_031885.4(BBS2):c.-40T>C rs115078074
NM_031885.4(BBS2):c.-42T>G rs78076550
NM_031885.4(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.4(BBS2):c.1152C>T (p.His384=) rs774493134
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.1910+9T>G rs751604858
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.345+10A>G rs770249850
NM_031885.4(BBS2):c.534+7G>C rs886052149
NM_031885.4(BBS2):c.612+12C>A rs77019529
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_031885.4(BBS2):c.865A>G (p.Ile289Val) rs150384293

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.