ClinVar Miner

List of variants in gene BBS2 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00049
NM_031885.5(BBS2):c.870C>T (p.Ala290=) rs750516217 0.00009
NM_031885.5(BBS2):c.354T>C (p.Asp118=) rs142396287 0.00004
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_031885.5(BBS2):c.720G>A (p.Ser240=) rs758715963 0.00001
NC_000016.10:g.56570676C>T
NM_031885.5(BBS2):c.831G>A (p.Gly277=) rs1204202948
NM_031885.5(BBS2):c.861T>C (p.Ser287=)

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.