ClinVar Miner

List of variants in gene BBS4 studied for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
Download table as spreadsheet
HGVS dbSNP
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
NC_000015.10:g.(?_72676034)_(72704515_?)dup
NC_000015.10:g.(?_72686218)_(72686261_?)del
NC_000015.10:g.(?_72709680)_(72712327_?)del
NC_000015.10:g.(?_72715271)_(72716870_?)del
NC_000015.10:g.72708224_72722485del
NM_033028.4(BBS4):c.157-?_220+?del
NM_033028.4:r.[118_261del;118_373del]
NM_033028.5(BBS4):c.*1G>C rs113678046
NM_033028.5(BBS4):c.*855_*856del rs748809330
NM_033028.5(BBS4):c.-6G>A rs367543011
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser) rs150395094
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1107G>A (p.Lys369=)
NM_033028.5(BBS4):c.1116_1119dup (p.Val374fs)
NM_033028.5(BBS4):c.1126dup (p.Leu376fs)
NM_033028.5(BBS4):c.1140G>A (p.Val380=) rs141511580
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn)
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164
NM_033028.5(BBS4):c.1248+1G>T
NM_033028.5(BBS4):c.1248+4T>C
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter)
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr)
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro) rs749034070
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln)
NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly)
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268
NM_033028.5(BBS4):c.1451-45T>C rs75847960
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs) rs398124432
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.157-3C>G rs1567412639
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) rs886039802
NM_033028.5(BBS4):c.17T>C (p.Val6Ala) rs113994185
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361
NM_033028.5(BBS4):c.18C>T (p.Val6=) rs113994187
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981
NM_033028.5(BBS4):c.20C>T (p.Ala7Val) rs113994186
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys) rs145168232
NM_033028.5(BBS4):c.24+8C>T rs200055760
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser)
NM_033028.5(BBS4):c.282A>G (p.Ala94=) rs370868102
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)
NM_033028.5(BBS4):c.28dup (p.Thr10fs) rs113994184
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
NM_033028.5(BBS4):c.333-1G>C
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191
NM_033028.5(BBS4):c.405+10G>C rs1216711857
NM_033028.5(BBS4):c.405+6T>C
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg) rs1595935759
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181
NM_033028.5(BBS4):c.461C>T (p.Ala154Val)
NM_033028.5(BBS4):c.463C>A (p.Gln155Lys)
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu) rs1177848403
NM_033028.5(BBS4):c.502G>A (p.Asp168Asn)
NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter) rs367882912
NM_033028.5(BBS4):c.514A>G (p.Ile172Val) rs145265395
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)
NM_033028.5(BBS4):c.626G>A (p.Gly209Glu) rs372822977
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp) rs727503820
NM_033028.5(BBS4):c.657del (p.Lys220fs) rs1567427651
NM_033028.5(BBS4):c.712-1G>A rs377031435
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256
NM_033028.5(BBS4):c.76+1G>T rs1465437164
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.77-6G>A rs8033604
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)
NM_033028.5(BBS4):c.830G>T (p.Gly277Val) rs749017489
NM_033028.5(BBS4):c.861G>T (p.Val287=) rs1595947650
NM_033028.5(BBS4):c.864G>A (p.Ala288=) rs141345544
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala) rs113994183
NM_033028.5(BBS4):c.906= (p.Phe302=) rs12914333
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333
NM_033028.5(BBS4):c.91A>G (p.Ile31Val) rs113994182
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr)
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152
NM_033028.5(BBS4):c.994A>G (p.Asn332Asp)

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.