ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
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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.*149C>A rs578051922
NM_033028.5(BBS4):c.*157C>G rs149263274
NM_033028.5(BBS4):c.*159A>G
NM_033028.5(BBS4):c.*1G>C rs113678046
NM_033028.5(BBS4):c.*200C>T
NM_033028.5(BBS4):c.*36G>A rs376830638
NM_033028.5(BBS4):c.*43G>T rs144706746
NM_033028.5(BBS4):c.*498T>C
NM_033028.5(BBS4):c.*522A>G
NM_033028.5(BBS4):c.*581T>A
NM_033028.5(BBS4):c.*608G>T rs12898814
NM_033028.5(BBS4):c.*611C>T rs41277724
NM_033028.5(BBS4):c.*643A>C rs886051469
NM_033028.5(BBS4):c.*65G>A
NM_033028.5(BBS4):c.*691G>A
NM_033028.5(BBS4):c.*737T>C
NM_033028.5(BBS4):c.*770C>T
NM_033028.5(BBS4):c.*783A>G
NM_033028.5(BBS4):c.*855_*856del rs748809330
NM_033028.5(BBS4):c.*883C>T rs886051470
NM_033028.5(BBS4):c.*885T>C rs753912948
NM_033028.5(BBS4):c.-6G>A rs367543011
NM_033028.5(BBS4):c.1029C>T (p.Leu343=)
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.1083C>T (p.Tyr361=)
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1107-7G>A rs766664389
NM_033028.5(BBS4):c.1140G>A (p.Val380=) rs141511580
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.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.1309A>G (p.Thr437Ala) rs775122250
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.1376A>G (p.Gln459Arg) rs766535822
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.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.1473C>G (p.Phe491Leu) rs886051468
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
NM_033028.5(BBS4):c.1512G>A (p.Ala504=)
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.1A>G (p.Met1Val)
NM_033028.5(BBS4):c.206_209CTAT[1] (p.Ile70fs) rs775928735
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.220+3A>T
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.275C>T (p.Thr92Ile) rs761814377
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.337C>T (p.Leu113Phe)
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
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.405+7A>G rs778651927
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.406-2A>G 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.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.587+1G>A rs886051466
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.657del (p.Lys220fs) rs1567427651
NM_033028.5(BBS4):c.684A>C (p.Ala228=)
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.75dup (p.Ala26fs) rs1567398832
NM_033028.5(BBS4):c.76+19G>T rs4777527
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.791G>T (p.Cys264Phe) rs200113494
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.960T>A (p.Tyr320Ter) rs770891152

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