ClinVar Miner

List of variants in gene BBS5 studied for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
NC_000002.12:g.(?_169492874)_(169493836_?)del
NC_000002.12:g.169504481_169504487del
NM_152384.3(BBS5):c.108C>T (p.Ser36=) rs16823066
NM_152384.3(BBS5):c.123del (p.Gly42fs) rs1272140892
NM_152384.3(BBS5):c.143-1G>A
NM_152384.3(BBS5):c.143-1G>C rs1054138918
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) rs1559121920
NM_152384.3(BBS5):c.18G>C (p.Ala6=) rs202051938
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707
NM_152384.3(BBS5):c.208+5G>T
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581
NM_152384.3(BBS5):c.25G>C (p.Glu9Gln)
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329
NM_152384.3(BBS5):c.285C>T (p.Leu95=) rs6752540
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln)
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile)
NM_152384.3(BBS5):c.39C>G (p.Val13=) rs10188609
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897
NM_152384.3(BBS5):c.462G>C (p.Leu154=) rs767240340
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409
NM_152384.3(BBS5):c.475C>T (p.His159Tyr)
NM_152384.3(BBS5):c.501T>A (p.Val167=) rs75690869
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser) rs758508869
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)
NM_152384.3(BBS5):c.60-3T>C rs201553380
NM_152384.3(BBS5):c.619-1G>C rs753234582
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251
NM_152384.3(BBS5):c.689G>A (p.Gly230Glu)
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys)
NM_152384.3(BBS5):c.814A>G (p.Lys272Glu)
NM_152384.3(BBS5):c.817-10T>A
NM_152384.3(BBS5):c.817-1G>A rs1466289570
NM_152384.3(BBS5):c.817-5T>G rs780213701
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)
NM_152384.3(BBS5):c.935G>A (p.Arg312His)

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.