ClinVar Miner

List of variants in gene BBS5 studied for Bardet-Biedl syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 293
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HGVS dbSNP gnomAD frequency
NM_152384.3(BBS5):c.108C>T (p.Ser36=) rs16823066 0.02951
NM_152384.3(BBS5):c.285C>T (p.Leu95=) rs6752540 0.00882
NM_152384.3(BBS5):c.501T>A (p.Val167=) rs75690869 0.00879
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485 0.00188
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298 0.00086
NM_152384.3(BBS5):c.197G>A (p.Arg66Lys) rs200250398 0.00018
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409 0.00017
NM_152384.3(BBS5):c.209-19C>A rs564695479 0.00011
NM_152384.3(BBS5):c.861T>C (p.Asp287=) rs1321191223 0.00010
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu) rs376275481 0.00009
NM_152384.3(BBS5):c.523-18C>T rs201051397 0.00008
NM_152384.3(BBS5):c.60-3T>C rs201553380 0.00008
NM_152384.3(BBS5):c.816+12A>G rs764194396 0.00008
NM_152384.3(BBS5):c.143-11T>C rs773551745 0.00007
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser) rs369075832 0.00007
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn) rs567175904 0.00006
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179 0.00006
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser) rs758508869 0.00006
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461 0.00005
NM_152384.3(BBS5):c.817-5T>G rs780213701 0.00005
NM_152384.3(BBS5):c.829G>A (p.Glu277Lys) rs754858756 0.00005
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_152384.3(BBS5):c.185T>C (p.Leu62Ser) rs370501865 0.00004
NM_152384.3(BBS5):c.208+15T>C rs1019098515 0.00004
NM_152384.3(BBS5):c.475C>T (p.His159Tyr) rs757525125 0.00004
NM_152384.3(BBS5):c.480A>G (p.Val160=) rs779349158 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152384.3(BBS5):c.693T>C (p.Tyr231=) rs150178711 0.00004
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys) rs376537695 0.00004
NM_152384.3(BBS5):c.825G>A (p.Pro275=) rs554049177 0.00004
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr) rs370849006 0.00003
NM_152384.3(BBS5):c.568C>T (p.His190Tyr) rs1264901746 0.00003
NM_152384.3(BBS5):c.600T>C (p.Ser200=) rs1229922724 0.00003
NM_152384.3(BBS5):c.668A>T (p.Glu223Val) rs775524491 0.00003
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys) rs199846010 0.00003
NM_152384.3(BBS5):c.226A>G (p.Ile76Val) rs763696357 0.00002
NM_152384.3(BBS5):c.229T>A (p.Leu77Met) rs753387321 0.00002
NM_152384.3(BBS5):c.462G>C (p.Leu154=) rs767240340 0.00002
NM_152384.3(BBS5):c.619-9T>C rs755143488 0.00002
NM_152384.3(BBS5):c.786A>C (p.Ile262=) rs769669565 0.00002
NM_152384.3(BBS5):c.792A>T (p.Gly264=) rs773030426 0.00002
NM_152384.3(BBS5):c.925-15C>T rs776117757 0.00002
NM_152384.3(BBS5):c.935G>A (p.Arg312His) rs751420732 0.00002
NM_152384.3(BBS5):c.979T>C (p.Leu327=) rs371959839 0.00002
NM_152384.3(BBS5):c.133G>A (p.Gly45Arg) rs1244934291 0.00001
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707 0.00001
NM_152384.3(BBS5):c.209-1G>A rs1172161975 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_152384.3(BBS5):c.259-3C>T rs564412855 0.00001
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329 0.00001
NM_152384.3(BBS5):c.266G>A (p.Arg89Gln) rs931751345 0.00001
NM_152384.3(BBS5):c.276T>C (p.Thr92=) rs775970045 0.00001
NM_152384.3(BBS5):c.287A>G (p.Tyr96Cys) rs763784832 0.00001
NM_152384.3(BBS5):c.325A>G (p.Ile109Val) rs758307712 0.00001
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile) rs375992092 0.00001
NM_152384.3(BBS5):c.364A>G (p.Thr122Ala) rs1244656681 0.00001
NM_152384.3(BBS5):c.386+16A>G rs1454698956 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys) rs1683625962 0.00001
NM_152384.3(BBS5):c.523-11G>A rs756035013 0.00001
NM_152384.3(BBS5):c.60-10T>G rs1224093899 0.00001
NM_152384.3(BBS5):c.633T>C (p.Ile211=) rs1245371466 0.00001
NM_152384.3(BBS5):c.664A>G (p.Ile222Val) rs146488006 0.00001
NM_152384.3(BBS5):c.675T>G (p.Ser225=) rs1299275211 0.00001
NM_152384.3(BBS5):c.681+9T>C rs751819870 0.00001
NM_152384.3(BBS5):c.817-1G>T rs1466289570 0.00001
NM_152384.3(BBS5):c.826C>T (p.Leu276Phe) rs770319545 0.00001
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys) rs759233586 0.00001
NM_152384.3(BBS5):c.887C>T (p.Thr296Met) rs755594935 0.00001
NM_152384.3(BBS5):c.888G>A (p.Thr296=) rs777702222 0.00001
NM_152384.3(BBS5):c.900G>C (p.Val300=) rs757001492 0.00001
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr) rs1395749164 0.00001
BBS5, 8-BP DEL/7-BP INS, NT263
NC_000002.11:g.(?_170336064)_(170336142_?)del
NC_000002.11:g.(?_170349364)_(170350366_?)del
NC_000002.11:g.(?_170359585)_(170361092_?)del
NC_000002.12:g.(?_169492874)_(169493836_?)del
NM_152384.2(BBS5):c.925_931del
NM_152384.3(BBS5):c.1001A>G (p.Gln334Arg) rs2105304403
NM_152384.3(BBS5):c.1003G>C (p.Gly335Arg)
NM_152384.3(BBS5):c.1005A>G (p.Gly335=)
NM_152384.3(BBS5):c.1009T>C (p.Trp337Arg)
NM_152384.3(BBS5):c.1023T>C (p.Ser341=) rs1488371231
NM_152384.3(BBS5):c.106T>A (p.Ser36Thr) rs1683411036
NM_152384.3(BBS5):c.108C>A (p.Ser36=)
NM_152384.3(BBS5):c.120C>A (p.Thr40=)
NM_152384.3(BBS5):c.123del (p.Gly42fs) rs1272140892
NM_152384.3(BBS5):c.135A>G (p.Gly45=)
NM_152384.3(BBS5):c.142+19G>A
NM_152384.3(BBS5):c.142+1G>T rs2105291750
NM_152384.3(BBS5):c.142+1del
NM_152384.3(BBS5):c.142+3G>T rs2105291754
NM_152384.3(BBS5):c.142+3_142+10dup rs1476627714
NM_152384.3(BBS5):c.142+9A>G rs2105291758
NM_152384.3(BBS5):c.143-12G>C
NM_152384.3(BBS5):c.143-13TG[2]
NM_152384.3(BBS5):c.143-19T>C
NM_152384.3(BBS5):c.143-1G>A rs1054138918
NM_152384.3(BBS5):c.143-7C>T rs1574336588
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) rs1559121920
NM_152384.3(BBS5):c.171T>C (p.Ile57=)
NM_152384.3(BBS5):c.174C>G (p.Leu58=) rs1683499085
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter) rs767221160
NM_152384.3(BBS5):c.180C>T (p.His60=)
NM_152384.3(BBS5):c.189A>T (p.Ala63=)
NM_152384.3(BBS5):c.198del (p.Val67fs)
NM_152384.3(BBS5):c.208+13G>T
NM_152384.3(BBS5):c.208+5G>T rs745646726
NM_152384.3(BBS5):c.209-17T>C
NM_152384.3(BBS5):c.209-19C>T
NM_152384.3(BBS5):c.209-9G>A
NM_152384.3(BBS5):c.210T>C (p.Ser70=)
NM_152384.3(BBS5):c.211G>A (p.Val71Ile) rs1397496181
NM_152384.3(BBS5):c.219C>T (p.Tyr73=) rs2105294702
NM_152384.3(BBS5):c.237T>C (p.Ile79=)
NM_152384.3(BBS5):c.246G>A (p.Arg82=)
NM_152384.3(BBS5):c.255C>T (p.Asn85=)
NM_152384.3(BBS5):c.258+14A>G
NM_152384.3(BBS5):c.258+14dup
NM_152384.3(BBS5):c.258+19A>G
NM_152384.3(BBS5):c.258+2T>C rs1559122157
NM_152384.3(BBS5):c.258+5G>A
NM_152384.3(BBS5):c.258+7C>G
NM_152384.3(BBS5):c.259-10_259-6dup
NM_152384.3(BBS5):c.259-12T>A
NM_152384.3(BBS5):c.259-13T>A
NM_152384.3(BBS5):c.259-1G>A
NM_152384.3(BBS5):c.259-3C>G rs564412855
NM_152384.3(BBS5):c.259-7C>G
NM_152384.3(BBS5):c.259-8C>T
NM_152384.3(BBS5):c.283C>G (p.Leu95Val)
NM_152384.3(BBS5):c.293T>C (p.Leu98Pro)
NM_152384.3(BBS5):c.303dup (p.Asn102Ter) rs1683515617
NM_152384.3(BBS5):c.313C>T (p.Arg105Cys) rs764755791
NM_152384.3(BBS5):c.342T>G (p.Val114=)
NM_152384.3(BBS5):c.345T>G (p.Pro115=)
NM_152384.3(BBS5):c.347G>A (p.Gly116Glu) rs1683516352
NM_152384.3(BBS5):c.347G>C (p.Gly116Ala) rs1683516352
NM_152384.3(BBS5):c.353C>G (p.Pro118Arg)
NM_152384.3(BBS5):c.365C>A (p.Thr122Asn)
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile) rs74271896
NM_152384.3(BBS5):c.381A>T (p.Val127=)
NM_152384.3(BBS5):c.386+10T>C
NM_152384.3(BBS5):c.386+11A>G
NM_152384.3(BBS5):c.386+13T>C
NM_152384.3(BBS5):c.386+1G>T rs1559122277
NM_152384.3(BBS5):c.387-10T>G
NM_152384.3(BBS5):c.387-14del
NM_152384.3(BBS5):c.387-15_387-12del rs756793669
NM_152384.3(BBS5):c.387-18G>C
NM_152384.3(BBS5):c.387-3T>C
NM_152384.3(BBS5):c.387-4A>T
NM_152384.3(BBS5):c.399T>C (p.Thr133=)
NM_152384.3(BBS5):c.406del (p.Met136fs) rs2105297751
NM_152384.3(BBS5):c.413G>C (p.Arg138Pro)
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
NM_152384.3(BBS5):c.424T>C (p.Leu142=)
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.428G>A (p.Arg143Lys)
NM_152384.3(BBS5):c.444del (p.Asn149fs)
NM_152384.3(BBS5):c.449A>G (p.Lys150Arg) rs1214512447
NM_152384.3(BBS5):c.452A>C (p.Gln151Pro)
NM_152384.3(BBS5):c.477T>C (p.His159=)
NM_152384.3(BBS5):c.479T>C (p.Val160Ala)
NM_152384.3(BBS5):c.492A>C (p.Ile164=)
NM_152384.3(BBS5):c.520C>T (p.Gln174Ter) rs2105297825
NM_152384.3(BBS5):c.522+10A>G
NM_152384.3(BBS5):c.522+3A>G rs587777828
NM_152384.3(BBS5):c.522+4T>C rs2105297829
NM_152384.3(BBS5):c.522+8G>A
NM_152384.3(BBS5):c.523-10T>C
NM_152384.3(BBS5):c.523-20C>G rs2105298167
NM_152384.3(BBS5):c.523-4A>G
NM_152384.3(BBS5):c.523-5del
NM_152384.3(BBS5):c.531A>G (p.Leu177=) rs2105298185
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_152384.3(BBS5):c.536C>T (p.Thr179Ile) rs1272114286
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) rs121908582
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)
NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter)
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs) rs1683644409
NM_152384.3(BBS5):c.562dup (p.Val188fs)
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter) rs1683644662
NM_152384.3(BBS5):c.569A>C (p.His190Pro) rs755408078
NM_152384.3(BBS5):c.576T>C (p.Asn192=)
NM_152384.3(BBS5):c.598A>G (p.Ser200Gly) rs2105298246
NM_152384.3(BBS5):c.60-11A>G
NM_152384.3(BBS5):c.60-14T>C
NM_152384.3(BBS5):c.60-17C>T
NM_152384.3(BBS5):c.60-19A>G rs2105291694
NM_152384.3(BBS5):c.60-19A>T
NM_152384.3(BBS5):c.60-2A>C
NM_152384.3(BBS5):c.60-7A>T
NM_152384.3(BBS5):c.60-9T>G
NM_152384.3(BBS5):c.603A>G (p.Ile201Met)
NM_152384.3(BBS5):c.607T>C (p.Tyr203His)
NM_152384.3(BBS5):c.618+10T>C
NM_152384.3(BBS5):c.618+11dup
NM_152384.3(BBS5):c.618+12C>A
NM_152384.3(BBS5):c.618+12C>T
NM_152384.3(BBS5):c.618+14_618+18del rs2105298276
NM_152384.3(BBS5):c.618+20T>A rs2105298279
NM_152384.3(BBS5):c.619-16_619-15del rs762885469
NM_152384.3(BBS5):c.619-19_619-14del rs776922529
NM_152384.3(BBS5):c.619C>T (p.Arg207Cys)
NM_152384.3(BBS5):c.623C>T (p.Ser208Leu)
NM_152384.3(BBS5):c.642A>G (p.Ser214=)
NM_152384.3(BBS5):c.649G>A (p.Gly217Ser) rs1427534237
NM_152384.3(BBS5):c.655del (p.Ala219fs) rs2105300418
NM_152384.3(BBS5):c.658C>T (p.Leu220Phe)
NM_152384.3(BBS5):c.670A>C (p.Ser224Arg)
NM_152384.3(BBS5):c.674C>G (p.Ser225Cys) rs776533440
NM_152384.3(BBS5):c.681+10T>G
NM_152384.3(BBS5):c.681+13A>G
NM_152384.3(BBS5):c.681+15A>C
NM_152384.3(BBS5):c.681+15A>G rs1262881139
NM_152384.3(BBS5):c.681+19T>C
NM_152384.3(BBS5):c.681+1G>T
NM_152384.3(BBS5):c.681+8C>G
NM_152384.3(BBS5):c.682-16A>T
NM_152384.3(BBS5):c.682-1G>A
NM_152384.3(BBS5):c.682-20T>A
NM_152384.3(BBS5):c.682-5T>C rs1256635364
NM_152384.3(BBS5):c.682-6T>A
NM_152384.3(BBS5):c.682-7C>A
NM_152384.3(BBS5):c.682-9C>A
NM_152384.3(BBS5):c.689G>A (p.Gly230Glu) rs1683759336
NM_152384.3(BBS5):c.708A>G (p.Lys236=)
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer) rs1471916487
NM_152384.3(BBS5):c.714T>A (p.Asp238Glu)
NM_152384.3(BBS5):c.720G>A (p.Val240=)
NM_152384.3(BBS5):c.729A>T (p.Leu243=)
NM_152384.3(BBS5):c.740T>G (p.Val247Gly)
NM_152384.3(BBS5):c.748A>C (p.Ile250Leu) rs2105301621
NM_152384.3(BBS5):c.752A>G (p.Asn251Ser) rs779916920
NM_152384.3(BBS5):c.764A>G (p.Lys255Arg) rs2105301646
NM_152384.3(BBS5):c.776C>T (p.Ala259Val) rs1246115410
NM_152384.3(BBS5):c.788T>C (p.Phe263Ser) rs969475017
NM_152384.3(BBS5):c.789T>C (p.Phe263=)
NM_152384.3(BBS5):c.790G>A (p.Gly264Arg) rs2105301667
NM_152384.3(BBS5):c.791G>T (p.Gly264Val) rs1574342816
NM_152384.3(BBS5):c.799T>G (p.Tyr267Asp)
NM_152384.3(BBS5):c.814A>G (p.Lys272Glu) rs763705177
NM_152384.3(BBS5):c.816+15A>T
NM_152384.3(BBS5):c.816+17G>A
NM_152384.3(BBS5):c.816+7T>C
NM_152384.3(BBS5):c.817-10T>A rs1683838280
NM_152384.3(BBS5):c.817-1G>A rs1466289570
NM_152384.3(BBS5):c.825G>T (p.Pro275=)
NM_152384.3(BBS5):c.828C>T (p.Leu276=)
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
NM_152384.3(BBS5):c.839C>A (p.Thr280Lys) rs1683839253
NM_152384.3(BBS5):c.843C>T (p.Val281=)
NM_152384.3(BBS5):c.844G>T (p.Glu282Ter)
NM_152384.3(BBS5):c.855A>G (p.Gln285=)
NM_152384.3(BBS5):c.867A>G (p.Glu289=) rs767142551
NM_152384.3(BBS5):c.873C>T (p.Asp291=) rs924567585
NM_152384.3(BBS5):c.875C>G (p.Ser292Cys) rs2105303568
NM_152384.3(BBS5):c.885C>T (p.His295=) rs752240452
NM_152384.3(BBS5):c.88C>T (p.Leu30Phe)
NM_152384.3(BBS5):c.890A>T (p.Asp297Val)
NM_152384.3(BBS5):c.894T>G (p.Ala298=)
NM_152384.3(BBS5):c.896T>C (p.Phe299Ser)
NM_152384.3(BBS5):c.898del (p.Val300fs) rs2105303591
NM_152384.3(BBS5):c.900+9C>A
NM_152384.3(BBS5):c.901-11T>G
NM_152384.3(BBS5):c.901-6T>C
NM_152384.3(BBS5):c.902C>T (p.Ala301Val) rs2105304210
NM_152384.3(BBS5):c.906T>C (p.Tyr302=)
NM_152384.3(BBS5):c.913G>T (p.Asp305Tyr) rs1683861388
NM_152384.3(BBS5):c.918C>A (p.Gly306=)
NM_152384.3(BBS5):c.924+11T>G
NM_152384.3(BBS5):c.924+12T>A
NM_152384.3(BBS5):c.924+16T>G
NM_152384.3(BBS5):c.925-19C>G
NM_152384.3(BBS5):c.925-3A>G rs2105304333
NM_152384.3(BBS5):c.925-4A>G
NM_152384.3(BBS5):c.925C>T (p.Gln309Ter) rs2105304338
NM_152384.3(BBS5):c.944_960del (p.Val315fs)
NM_152384.3(BBS5):c.960G>A (p.Leu320=)
NM_152384.3(BBS5):c.963G>A (p.Gly321=)
NM_152384.3(BBS5):c.966T>G (p.Leu322=) rs1683865980
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427
NM_152384.3(BBS5):c.969A>C (p.Ala323=)
NM_152384.3(BBS5):c.977_978del (p.Lys326fs) rs2105304387
NM_152384.3(BBS5):c.999A>G (p.Leu333=)
NM_152384.3:c.(?_-60)_(386+1_387-1)del

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