ClinVar Miner

List of variants in gene BBS4 studied for Bardet-Biedl syndrome 4

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Gene type:
ClinVar version:
Total variants: 203
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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.-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.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.*611C>T rs41277724 0.00586
NM_033028.5(BBS4):c.1106+20T>C rs145968663 0.00461
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.460-20T>C rs200203402 0.00048
NM_033028.5(BBS4):c.157-19A>G rs373166573 0.00046
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.24+18C>G rs368789560 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.864G>A (p.Ala288=) rs141345544 0.00022
NM_033028.5(BBS4):c.*783A>G rs775532255 0.00020
NM_033028.5(BBS4):c.1107-11G>C rs373344695 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.64C>T (p.Arg22Trp) rs727503820 0.00013
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.1114C>T (p.Pro372Ser) rs375558008 0.00006
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr) rs769886837 0.00006
NM_033028.5(BBS4):c.643-6T>C rs753675755 0.00006
NM_033028.5(BBS4):c.*885T>C rs753912948 0.00005
NM_033028.5(BBS4):c.1170C>T (p.Asn390=) rs376378002 0.00005
NM_033028.5(BBS4):c.76+18dup rs745516764 0.00005
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg) rs149577332 0.00004
NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr) rs370963556 0.00004
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr) rs760437306 0.00004
NM_033028.5(BBS4):c.1311C>G (p.Thr437=) rs945847885 0.00004
NM_033028.5(BBS4):c.405+6T>C rs926942882 0.00004
NM_033028.5(BBS4):c.501C>T (p.His167=) rs745789574 0.00004
NM_033028.5(BBS4):c.712-14T>A rs375598833 0.00004
NM_033028.5(BBS4):c.986C>T (p.Ala329Val) rs201987100 0.00004
NM_033028.5(BBS4):c.*149C>A rs578051922 0.00003
NM_033028.5(BBS4):c.-3A>G rs771900208 0.00003
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr) rs969384648 0.00003
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser) rs751716258 0.00003
NM_033028.5(BBS4):c.233G>A (p.Arg78His) rs200396355 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_033028.5(BBS4):c.928T>C (p.Leu310=) rs375714932 0.00003
NM_033028.5(BBS4):c.-44G>C rs886051465 0.00002
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter) rs914062190 0.00002
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met) rs754792792 0.00002
NM_033028.5(BBS4):c.153C>T (p.Cys51=) rs754709708 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.799C>G (p.Pro267Ala) rs775034843 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.1072_1073del (p.Lys358fs) rs2065896039 0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu) rs28938468 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val) rs1419955498 0.00001
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947 0.00001
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro) rs569462424 0.00001
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp) rs914591602 0.00001
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala) rs775122250 0.00001
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro) rs749034070 0.00001
NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser) rs1214182249 0.00001
NM_033028.5(BBS4):c.1512G>A (p.Ala504=) rs369958857 0.00001
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter) rs1338469029 0.00001
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr) rs530223854 0.00001
NM_033028.5(BBS4):c.408G>A (p.Glu136=) rs201881253 0.00001
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309 0.00001
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln) rs775955872 0.00001
NM_033028.5(BBS4):c.684A>C (p.Ala228=) rs35132058 0.00001
NM_033028.5(BBS4):c.697C>G (p.Pro233Ala) rs569388336 0.00001
NM_033028.5(BBS4):c.760G>A (p.Val254Ile) rs532770420 0.00001
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu) rs748048479 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys) rs199831925 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.1013G>T (p.Gly338Val) rs750983167
NM_033028.5(BBS4):c.101del (p.Lys34fs)
NM_033028.5(BBS4):c.1037-1G>A
NM_033028.5(BBS4):c.1037-2A>G
NM_033028.5(BBS4):c.103C>T (p.Gln35Ter)
NM_033028.5(BBS4):c.10G>T (p.Glu4Ter)
NM_033028.5(BBS4):c.1106+1G>A
NM_033028.5(BBS4):c.1106+2T>C
NM_033028.5(BBS4):c.1106del (p.Lys369fs)
NM_033028.5(BBS4):c.1118T>A (p.Leu373Ter)
NM_033028.5(BBS4):c.1124del (p.Asn375fs)
NM_033028.5(BBS4):c.1159G>T (p.Glu387Ter)
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del) rs759315856
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
NM_033028.5(BBS4):c.1185T>A (p.Tyr395Ter)
NM_033028.5(BBS4):c.118del (p.His40fs)
NM_033028.5(BBS4):c.1202_1203dup (p.Val402fs)
NM_033028.5(BBS4):c.1205_1208del (p.Val402fs)
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.1234dup (p.Glu412fs)
NM_033028.5(BBS4):c.1248+1G>A
NM_033028.5(BBS4):c.1248+1G>T rs1419924139
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_033028.5(BBS4):c.1248+2dup
NM_033028.5(BBS4):c.1248G>A (p.Glu416=) rs914591602
NM_033028.5(BBS4):c.1249-2A>C
NM_033028.5(BBS4):c.1264C>T (p.Gln422Ter)
NM_033028.5(BBS4):c.1286A>G (p.Gln429Arg)
NM_033028.5(BBS4):c.1294dup (p.Glu432fs)
NM_033028.5(BBS4):c.1308G>A (p.Trp436Ter)
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly) rs753145823
NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg) rs766535822
NM_033028.5(BBS4):c.1389dup (p.Ser464fs)
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro) rs776847398
NM_033028.5(BBS4):c.1391C>G (p.Ser464Cys)
NM_033028.5(BBS4):c.1398del (p.Ala467fs)
NM_033028.5(BBS4):c.1400dup (p.Leu468fs)
NM_033028.5(BBS4):c.1450+2T>C
NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu) rs886051468
NM_033028.5(BBS4):c.1493del (p.Pro498fs) rs777455492
NM_033028.5(BBS4):c.150del (p.Cys51fs)
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs) rs1463405501
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) rs886039802
NM_033028.5(BBS4):c.175del (p.Leu59fs)
NM_033028.5(BBS4):c.210_213del (p.Ile70fs) rs775928735
NM_033028.5(BBS4):c.220+1G>A
NM_033028.5(BBS4):c.220+3A>T rs376143305
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
NM_033028.5(BBS4):c.24+1G>A rs759520211
NM_033028.5(BBS4):c.24+1G>T rs759520211
NM_033028.5(BBS4):c.276_277del (p.Ala94fs)
NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs) rs2065449579
NM_033028.5(BBS4):c.295C>T (p.Gln99Ter)
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
NM_033028.5(BBS4):c.332+2_332+3insTT rs753360929
NM_033028.5(BBS4):c.333-2A>C
NM_033028.5(BBS4):c.341del (p.Leu114fs) rs750258633
NM_033028.5(BBS4):c.389_393del (p.Leu130fs)
NM_033028.5(BBS4):c.405G>A (p.Trp135Ter)
NM_033028.5(BBS4):c.406-2A>G rs113994191
NM_033028.5(BBS4):c.406G>T (p.Glu136Ter)
NM_033028.5(BBS4):c.412del (p.Ser138fs)
NM_033028.5(BBS4):c.428T>A (p.Val143Asp) rs2065601390
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn) rs781691906
NM_033028.5(BBS4):c.460-15T>A
NM_033028.5(BBS4):c.460-2A>T
NM_033028.5(BBS4):c.466_479del (p.Asp156fs)
NM_033028.5(BBS4):c.470A>G (p.Gln157Arg)
NM_033028.5(BBS4):c.511dup (p.Tyr171fs)
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys) rs756915341
NM_033028.5(BBS4):c.584_585dup (p.Glu196fs)
NM_033028.5(BBS4):c.587+1G>A rs886051466
NM_033028.5(BBS4):c.608_609del (p.Glu203fs)
NM_033028.5(BBS4):c.60del (p.Lys20fs)
NM_033028.5(BBS4):c.616dup (p.Thr206fs)
NM_033028.5(BBS4):c.638T>A (p.Leu213Ter) rs1060503692
NM_033028.5(BBS4):c.642+1G>A
NM_033028.5(BBS4):c.642+2T>G
NM_033028.5(BBS4):c.67C>T (p.Gln23Ter)
NM_033028.5(BBS4):c.712-15G>C rs2065814889
NM_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832
NM_033028.5(BBS4):c.76+3del
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe) rs200113494
NM_033028.5(BBS4):c.819del (p.Leu272_Trp273insTer)
NM_033028.5(BBS4):c.864+1G>A
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033028.5(BBS4):c.87del (p.Pro30fs)
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_033028.5(BBS4):c.929del (p.Leu310fs) rs889012564
NM_033028.5(BBS4):c.943T>C (p.Leu315=) rs1433729329
NM_033028.5(BBS4):c.95T>A (p.Leu32Ter)
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152
NM_033028.5(BBS4):c.967G>C (p.Ala323Pro)

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