ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830 0.00001
NM_033028.5(BBS4):c.332+8T>C rs1456405256 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter) rs771628868
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.1214_1215insSVA
NM_024649.5(BBS1):c.124+1G>A rs1057516449
NM_024649.5(BBS1):c.1243del (p.Val415fs) rs1590772920
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1642del (p.Leu548fs) rs1555050404
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter) rs1012901050
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter) rs1856010874
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter) rs2134771570
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.47+1G>T rs1475257145
NM_024649.5(BBS1):c.48-1G>A rs751753112
NM_024649.5(BBS1):c.48-3C>G rs869025204
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer) rs2134780429
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) rs778850233
NM_024649.5(BBS1):c.752del (p.Leu251fs) rs2134784600
NM_024649.5(BBS1):c.830+350_1110+217del
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.887del (p.Ile296fs) rs794727006
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.951+1G>T rs746875134
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024649.5(BBS1):c.952-1G>C rs1057516661
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs) rs2150737232
NM_152618.3(BBS12):c.1685del (p.Asn562fs)
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137

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.