ClinVar Miner

List of variants in gene BBS4 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 232
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.*611C>T rs41277724 0.00586
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.*157C>G rs149263274 0.00108
NM_033028.5(BBS4):c.*200C>T rs191015723 0.00083
NM_033028.5(BBS4):c.-14T>A rs146238636 0.00073
NM_033028.5(BBS4):c.514A>G (p.Ile172Val) rs145265395 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.864G>A (p.Ala288=) rs141345544 0.00022
NM_033028.5(BBS4):c.*783A>G rs775532255 0.00020
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe) rs760909426 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.1036+6A>G rs374383864 0.00016
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.24+6C>T rs1427489194 0.00012
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs) rs748758201 0.00011
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.1440dup (p.Leu481fs) rs780269741 0.00006
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr) rs769886837 0.00006
NM_033028.5(BBS4):c.*885T>C rs753912948 0.00005
NM_033028.5(BBS4):c.1009A>T (p.Met337Leu) rs1021016026 0.00004
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg) rs149577332 0.00004
NM_033028.5(BBS4):c.1157G>A (p.Gly386Asp) rs143607861 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.405+6T>C rs926942882 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.*855_*856del rs748809330 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.1327C>G (p.Pro443Ala) rs760115702 0.00003
NM_033028.5(BBS4):c.1462A>G (p.Thr488Ala) rs746070171 0.00003
NM_033028.5(BBS4):c.1550G>A (p.Arg517Lys) rs201651412 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.975T>A (p.His325Gln) rs769873362 0.00003
NM_033028.4(BBS4):c.-44G>C rs886051465 0.00002
NM_033028.5(BBS4):c.1126C>G (p.Leu376Val) rs760324204 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.332+5G>A rs758789705 0.00002
NM_033028.5(BBS4):c.333-3C>T rs369781535 0.00002
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala) rs775034843 0.00002
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.1072A>C (p.Lys358Gln) rs560253658 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_033028.5(BBS4):c.1107G>A (p.Lys369=) rs773893992 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.1248+5G>A rs756449572 0.00001
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp) rs914591602 0.00001
NM_033028.5(BBS4):c.1289T>C (p.Val430Ala) rs767070801 0.00001
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala) rs775122250 0.00001
NM_033028.5(BBS4):c.1319T>A (p.Val440Asp) rs754157578 0.00001
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr) rs765715632 0.00001
NM_033028.5(BBS4):c.1336A>C (p.Lys446Gln) rs201230357 0.00001
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro) rs749034070 0.00001
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln) rs1050164962 0.00001
NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser) rs1214182249 0.00001
NM_033028.5(BBS4):c.1429G>A (p.Ala477Thr) rs760480986 0.00001
NM_033028.5(BBS4):c.14G>C (p.Arg5Thr) rs1307094685 0.00001
NM_033028.5(BBS4):c.1512G>A (p.Ala504=) rs369958857 0.00001
NM_033028.5(BBS4):c.179A>G (p.Gln60Arg) rs916245903 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_033028.5(BBS4):c.214G>A (p.Val72Ile) rs749578199 0.00001
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys) rs145168232 0.00001
NM_033028.5(BBS4):c.23C>T (p.Thr8Met) rs769894375 0.00001
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg) rs2065449512 0.00001
NM_033028.5(BBS4):c.315G>T (p.Lys105Asn) rs766485888 0.00001
NM_033028.5(BBS4):c.31C>G (p.Gln11Glu) rs1040144478 0.00001
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr) rs530223854 0.00001
NM_033028.5(BBS4):c.461C>T (p.Ala154Val) rs756744863 0.00001
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu) rs1177848403 0.00001
NM_033028.5(BBS4):c.593C>T (p.Ser198Leu) rs751076253 0.00001
NM_033028.5(BBS4):c.595C>T (p.Pro199Ser) rs371598044 0.00001
NM_033028.5(BBS4):c.5C>T (p.Ala2Val) rs923399180 0.00001
NM_033028.5(BBS4):c.61C>T (p.Pro21Ser) rs916749492 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.706T>C (p.Tyr236His) rs746172575 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.852G>T (p.Lys284Asn) rs12373005 0.00001
NM_033028.5(BBS4):c.863C>T (p.Ala288Val) rs772051835 0.00001
NM_033028.5(BBS4):c.884G>A (p.Arg295Gln) rs121434632 0.00001
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys) rs199831925 0.00001
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr) rs1178593849 0.00001
NM_033028.5(BBS4):c.999C>G (p.Phe333Leu) rs774619624 0.00001
NC_000015.10:g.(?_72676034)_(72704515_?)dup
NC_000015.9:g.(?_72978549)_(73029948_?)dup
NM_033028.5(BBS4):c.*159A>G rs2065955405
NM_033028.5(BBS4):c.*1_*2delGA
NM_033028.5(BBS4):c.*1_*3delGAA
NM_033028.5(BBS4):c.*883C>T rs886051470
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val) rs750983167
NM_033028.5(BBS4):c.1027C>A (p.Leu343Ile) rs758032659
NM_033028.5(BBS4):c.1032G>C (p.Leu344Phe)
NM_033028.5(BBS4):c.1039G>A (p.Ala347Thr)
NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln) rs1478448702
NM_033028.5(BBS4):c.1076G>C (p.Arg359Thr) rs367767132
NM_033028.5(BBS4):c.10G>A (p.Glu4Lys) rs1336636537
NM_033028.5(BBS4):c.10G>C (p.Glu4Gln)
NM_033028.5(BBS4):c.1107-10_1107-7del rs770577174
NM_033028.5(BBS4):c.1133A>G (p.Tyr378Cys) rs766266805
NM_033028.5(BBS4):c.1159G>A (p.Glu387Lys)
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del) rs759315856
NM_033028.5(BBS4):c.1166A>G (p.Lys389Arg)
NM_033028.5(BBS4):c.116T>C (p.Ile39Thr)
NM_033028.5(BBS4):c.1183T>C (p.Tyr395His)
NM_033028.5(BBS4):c.1197GAA[1] (p.Lys401del) rs1414925501
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn) rs1295583634
NM_033028.5(BBS4):c.1226G>T (p.Ser409Ile)
NM_033028.5(BBS4):c.1248+4T>C rs2065914727
NM_033028.5(BBS4):c.1248G>A (p.Glu416=) rs914591602
NM_033028.5(BBS4):c.1286A>G (p.Gln429Arg)
NM_033028.5(BBS4):c.1287G>T (p.Gln429His)
NM_033028.5(BBS4):c.1289T>G (p.Val430Gly) rs767070801
NM_033028.5(BBS4):c.1294del (p.Glu432fs) rs912967826
NM_033028.5(BBS4):c.1306T>G (p.Trp436Gly) rs2151057022
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly) rs753145823
NM_033028.5(BBS4):c.133C>T (p.Arg45Trp)
NM_033028.5(BBS4):c.1340A>C (p.His447Pro) rs1419223053
NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly) rs773209808
NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg) rs766535822
NM_033028.5(BBS4):c.1388G>C (p.Gly463Ala)
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro) rs776847398
NM_033028.5(BBS4):c.1391C>G (p.Ser464Cys)
NM_033028.5(BBS4):c.1405G>C (p.Gly469Arg)
NM_033028.5(BBS4):c.1409A>T (p.Gln470Leu) rs2065937102
NM_033028.5(BBS4):c.1414A>C (p.Met472Leu) rs2277596
NM_033028.5(BBS4):c.1450+2_1450+5del rs1287237832
NM_033028.5(BBS4):c.1450G>A (p.Gly484Ser) rs2065938048
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.1456G>A (p.Gly486Arg)
NM_033028.5(BBS4):c.1459G>C (p.Gly487Arg) rs2151058260
NM_033028.5(BBS4):c.1468C>T (p.Gln490Ter)
NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu) rs886051468
NM_033028.5(BBS4):c.1483C>T (p.Pro495Ser)
NM_033028.5(BBS4):c.1493del (p.Pro498fs) rs777455492
NM_033028.5(BBS4):c.1506G>T (p.Glu502Asp)
NM_033028.5(BBS4):c.1510G>A (p.Ala504Thr)
NM_033028.5(BBS4):c.1517A>T (p.Glu506Val) rs1278438729
NM_033028.5(BBS4):c.1541A>G (p.Glu514Gly) rs2065950720
NM_033028.5(BBS4):c.1549_1551del (p.Arg517del)
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs) rs1463405501
NM_033028.5(BBS4):c.156+4A>G
NM_033028.5(BBS4):c.157-20C>T rs2151019478
NM_033028.5(BBS4):c.16G>A (p.Val6Ile)
NM_033028.5(BBS4):c.19G>A (p.Ala7Thr) rs2064831111
NM_033028.5(BBS4):c.19G>C (p.Ala7Pro) rs2064831111
NM_033028.5(BBS4):c.20C>G (p.Ala7Gly)
NM_033028.5(BBS4):c.220+3A>G
NM_033028.5(BBS4):c.220+3A>T rs376143305
NM_033028.5(BBS4):c.226A>G (p.Ile76Val)
NM_033028.5(BBS4):c.240A>C (p.Glu80Asp) rs745338483
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser) rs1567415169
NM_033028.5(BBS4):c.252A>T (p.Gln84His) rs2065448650
NM_033028.5(BBS4):c.255A>C (p.Glu85Asp)
NM_033028.5(BBS4):c.276A>G (p.Thr92=) rs2151023356
NM_033028.5(BBS4):c.317A>G (p.Gln106Arg) rs139038321
NM_033028.5(BBS4):c.327A>T (p.Arg109Ser)
NM_033028.5(BBS4):c.332+2dup rs753360929
NM_033028.5(BBS4):c.333-13A>G
NM_033028.5(BBS4):c.349C>T (p.His117Tyr) rs765399591
NM_033028.5(BBS4):c.385A>G (p.Lys129Glu)
NM_033028.5(BBS4):c.403T>A (p.Trp135Arg) rs768304898
NM_033028.5(BBS4):c.428T>A (p.Val143Asp) rs2065601390
NM_033028.5(BBS4):c.434A>G (p.Tyr145Cys)
NM_033028.5(BBS4):c.435C>T (p.Tyr145=)
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn) rs781691906
NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)
NM_033028.5(BBS4):c.460-15T>A
NM_033028.5(BBS4):c.463C>A (p.Gln155Lys) rs147391634
NM_033028.5(BBS4):c.470A>G (p.Gln157Arg)
NM_033028.5(BBS4):c.502G>A (p.Asp168Asn) rs769766779
NM_033028.5(BBS4):c.502G>T (p.Asp168Tyr)
NM_033028.5(BBS4):c.530T>G (p.Ile177Ser) rs1341828921
NM_033028.5(BBS4):c.548A>G (p.Asp183Gly) rs751216768
NM_033028.5(BBS4):c.562A>G (p.Ile188Val) rs2151034404
NM_033028.5(BBS4):c.566A>T (p.Glu189Val)
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys) rs756915341
NM_033028.5(BBS4):c.587+1G>A rs886051466
NM_033028.5(BBS4):c.596C>T (p.Pro199Leu)
NM_033028.5(BBS4):c.617C>A (p.Thr206Lys)
NM_033028.5(BBS4):c.619A>G (p.Thr207Ala) rs558382374
NM_033028.5(BBS4):c.629T>C (p.Leu210Ser)
NM_033028.5(BBS4):c.631C>T (p.Leu211Phe) rs1567426035
NM_033028.5(BBS4):c.683C>T (p.Ala228Val) rs2151043996
NM_033028.5(BBS4):c.701C>A (p.Thr234Asn) rs2151044050
NM_033028.5(BBS4):c.740A>G (p.Gln247Arg) rs746471801
NM_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832
NM_033028.5(BBS4):c.76+3del
NM_033028.5(BBS4):c.770C>G (p.Thr257Ser)
NM_033028.5(BBS4):c.775T>A (p.Tyr259Asn)
NM_033028.5(BBS4):c.776A>T (p.Tyr259Phe) rs146595193
NM_033028.5(BBS4):c.77C>T (p.Ala26Val) rs2151016128
NM_033028.5(BBS4):c.797T>G (p.Val266Gly)
NM_033028.5(BBS4):c.821A>G (p.Asn274Ser)
NM_033028.5(BBS4):c.85T>G (p.Phe29Val)
NM_033028.5(BBS4):c.863C>A (p.Ala288Glu)
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033028.5(BBS4):c.865-3T>C
NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)
NM_033028.5(BBS4):c.947C>T (p.Thr316Ile)
NM_033028.5(BBS4):c.956A>G (p.Gln319Arg) rs1595948085
NM_033028.5(BBS4):c.961G>C (p.Ala321Pro)
NM_033028.5(BBS4):c.988G>A (p.Ala330Thr) rs2065827621
NM_033028.5(BBS4):c.991A>G (p.Ile331Val) rs1316841175
NM_033028.5(BBS4):c.991A>T (p.Ile331Phe)
NM_033028.5(BBS4):c.994A>G (p.Asn332Asp) rs2065827783
NM_033028.5(BBS4):c.998T>A (p.Phe333Tyr)

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