ClinVar Miner

List of variants in gene BBS4 reported as benign for Bardet-Biedl syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333 0.95849
NM_033028.5(BBS4):c.1036+114G>A rs9806635 0.95845
NM_033028.5(BBS4):c.1248+68G>A rs12324395 0.95651
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_033028.5(BBS4):c.76+19G>T rs4777527 0.94399
NM_033028.5(BBS4):c.643-102T>C rs6495015 0.54330
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_033028.5(BBS4):c.1451-45T>C rs75847960 0.08550
NM_033028.5(BBS4):c.-17C>T rs56368716 0.06844
NM_033028.4(BBS4):c.-38C>A rs11637927 0.04836
NM_033028.5(BBS4):c.906= (p.Phe302=) rs12914333 0.04151
NM_033028.5(BBS4):c.405+17C>T rs80334351 0.02539
NM_033028.5(BBS4):c.*1G>C rs113678046 0.01165
NM_033028.5(BBS4):c.712-17C>G rs150754122 0.01051
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361 0.00852
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_033028.5(BBS4):c.1106+20T>C rs145968663 0.00461
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165 0.00458
NM_033028.5(BBS4):c.332+27dup rs558055315 0.00243
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191 0.00134
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981 0.00118
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser) rs150395094 0.00096
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_033028.5(BBS4):c.460-20T>C rs200203402 0.00048
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_033028.5(BBS4):c.459+14G>C rs200810799 0.00024
NM_033028.5(BBS4):c.1107-14T>G rs185052338 0.00022
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268 0.00017
NM_033028.5(BBS4):c.1215C>G (p.Leu405=) rs3759869 0.00015
NM_033028.5(BBS4):c.17T>C (p.Val6Ala) rs113994185 0.00001
NM_033028.5(BBS4):c.18C>T (p.Val6=) rs113994187 0.00001
NM_033028.5(BBS4):c.20C>T (p.Ala7Val) rs113994186 0.00001
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181 0.00001
NM_033028.5(BBS4):c.91A>G (p.Ile31Val) rs113994182 0.00001
NM_033028.5(BBS4):c.*608G>T rs12898814
NM_033028.5(BBS4):c.-17C>A rs56368716
NM_033028.5(BBS4):c.-6G>A rs367543011
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1451-14del
NM_033028.5(BBS4):c.24+9C>T
NM_033028.5(BBS4):c.28dup (p.Thr10fs) rs113994184
NM_033028.5(BBS4):c.406-11del
NM_033028.5(BBS4):c.864+12del
NM_033028.5(BBS4):c.864+12dup rs1476015172
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala) rs113994183

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