ClinVar Miner

List of variants in gene BBS2 reported as likely pathogenic for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.1112del (p.Asp371fs) rs1472488128 0.00001
NM_031885.5(BBS2):c.117+1G>A rs1964866367 0.00001
NM_031885.5(BBS2):c.1225+2T>C rs1279981768 0.00001
NM_031885.5(BBS2):c.1398-2A>G rs767609303 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly) rs1228731722 0.00001
NM_031885.5(BBS2):c.345+1G>A rs771700269 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.612+1G>T rs1964531402 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
GRCh38/hg38 16q13(chr16:56496014-56504285)
NC_000016.9:g.(?_56530859)_(56536740_?)dup
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.5(BBS2):c.1080+2T>C rs771554923
NM_031885.5(BBS2):c.1081-1G>A rs1555522000
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
NM_031885.5(BBS2):c.118-1G>T rs587777825
NM_031885.5(BBS2):c.118-2A>C rs2543742094
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1397+1G>A rs1225299095
NM_031885.5(BBS2):c.1397+2T>C rs779506379
NM_031885.5(BBS2):c.1527+1G>A rs2144138948
NM_031885.5(BBS2):c.1527+2T>G rs2543704184
NM_031885.5(BBS2):c.1528-1G>C rs2144135065
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1797G>A (p.Lys599=) rs1177431007
NM_031885.5(BBS2):c.1798-2A>G rs2144130282
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1911-1G>A rs1555520256
NM_031885.5(BBS2):c.1911-1G>C rs1555520256
NM_031885.5(BBS2):c.1911-986_1914del rs2543672661
NM_031885.5(BBS2):c.23T>C (p.Leu8Pro)
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.535-1G>A rs2144177127
NM_031885.5(BBS2):c.535-2A>G rs1555523398
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro) rs776681366
NM_031885.5(BBS2):c.804+1G>T rs2144162056
NM_031885.5(BBS2):c.804+1_804+14del rs1202682571
NM_031885.5(BBS2):c.806T>G (p.Val269Gly) rs886039797
NM_031885.5(BBS2):c.941-2A>G rs878962682

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.