ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NC_000015.10:g.(?_72676034)_(72704515_?)dup
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.*200C>T
NM_033028.5(BBS4):c.*36G>A rs376830638
NM_033028.5(BBS4):c.*498T>C
NM_033028.5(BBS4):c.*581T>A
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.*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.1029C>T (p.Leu343=)
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=)
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770
NM_033028.5(BBS4):c.1107-7G>A rs766664389
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.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.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.1440G>A (p.Thr480=) rs148682268
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.1556A>G (p.Lys519Arg)
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
NM_033028.5(BBS4):c.220+3A>T
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys) rs145168232
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser)
NM_033028.5(BBS4):c.275C>T (p.Thr92Ile) rs761814377
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser) rs151164191
NM_033028.5(BBS4):c.405+6T>C
NM_033028.5(BBS4):c.405+7A>G rs778651927
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.587+1G>A rs886051466
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309
NM_033028.5(BBS4):c.684A>C (p.Ala228=)
NM_033028.5(BBS4):c.712-1G>A rs377031435
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256
NM_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832

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.