ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 4 by Illumina Laboratory Services, Illumina

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
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.*1G>C rs113678046 0.01165
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.*611C>T rs41277724 0.00586
NM_033028.5(BBS4):c.*43G>T rs144706746 0.00421
NM_033028.5(BBS4):c.*737T>C rs572076143 0.00176
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.*157C>G rs149263274 0.00108
NM_033028.5(BBS4):c.*200C>T rs191015723 0.00083
NM_033028.5(BBS4):c.*691G>A rs192812230 0.00074
NM_033028.5(BBS4):c.-14T>A rs146238636 0.00073
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_033028.5(BBS4):c.*36G>A rs376830638 0.00050
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.*498T>C rs187276976 0.00029
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val) rs150706579 0.00029
NM_033028.5(BBS4):c.*65G>A rs576340233 0.00027
NM_033028.5(BBS4):c.*783A>G rs775532255 0.00020
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256 0.00019
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.*770C>T rs777872738 0.00014
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys) rs144696430 0.00009
NM_033028.5(BBS4):c.405+7A>G rs778651927 0.00007
NM_033028.5(BBS4):c.1083C>T (p.Tyr361=) rs749282837 0.00006
NM_033028.5(BBS4):c.1107-7G>A rs766664389 0.00006
NM_033028.5(BBS4):c.*885T>C rs753912948 0.00005
NM_033028.5(BBS4):c.*149C>A rs578051922 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_033028.5(BBS4):c.-44G>C rs886051465 0.00002
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg) rs758120829 0.00002
NM_033028.5(BBS4):c.275C>T (p.Thr92Ile) rs761814377 0.00002
NM_033028.5(BBS4):c.*522A>G rs531501103 0.00001
NM_033028.5(BBS4):c.*581T>A rs936319236 0.00001
NM_033028.5(BBS4):c.*643A>C rs886051469 0.00001
NM_033028.5(BBS4):c.1029C>T (p.Leu343=) rs1000977139 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947 0.00001
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala) rs775122250 0.00001
NM_033028.5(BBS4):c.1512G>A (p.Ala504=) rs369958857 0.00001
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309 0.00001
NM_033028.5(BBS4):c.684A>C (p.Ala228=) rs35132058 0.00001
NM_033028.5(BBS4):c.*159A>G rs2065955405
NM_033028.5(BBS4):c.*608G>T rs12898814
NM_033028.5(BBS4):c.*883C>T rs886051470
NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg) rs766535822
NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu) rs886051468
NM_033028.5(BBS4):c.220+3A>T rs376143305
NM_033028.5(BBS4):c.587+1G>A rs886051466

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