ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 248
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_015910.7(WDPCP):c.209-1G>A rs767481770 0.00006
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp) rs751375244 0.00004
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_015662.3(IFT172):c.986C>T (p.Thr329Met) rs568736482 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.479+2T>G rs1353098253 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_024649.5(BBS1):c.1111-2A>G rs761969357 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689 0.00001
NM_024649.5(BBS1):c.952-1G>A rs1057516661 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_031885.5(BBS2):c.1080+2T>C rs771554923 0.00001
NM_031885.5(BBS2):c.117+1G>A rs1964866367 0.00001
NM_031885.5(BBS2):c.1398-2A>G rs767609303 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_031885.5(BBS2):c.612+1G>T rs1964531402 0.00001
NM_031885.5(BBS2):c.940+1del rs746171104 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
NM_152384.3(BBS5):c.817-1G>T rs1466289570 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_198428.3(BBS9):c.442+1G>C rs587777811 0.00001
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
GRCh38/hg38 11q13.2(chr11:66507369-66525103)
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
GRCh38/hg38 16q13(chr16:56496014-56504285)
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]
NC_000002.11:g.(?_170343559)_(170350366_?)dup
NC_000002.11:g.(?_63380029)_(63380729_?)dup
NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup
NC_000004.11:g.(?_122749645)_(122750373_?)del
NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
NC_000007.13:g.(?_33185923)_(33193039_?)del
NC_000007.13:g.(?_33192293)_(33192483_?)dup
NC_000007.13:g.(?_33195240)_(33195324_?)dup
NC_000007.13:g.(?_33296828)_(33297042_?)dup
NC_000007.13:g.(?_33312604)_(33313588_?)dup
NC_000007.13:g.(?_33388660)_(33397627_?)dup
NC_000011.9:g.(?_66281867)_(66288857_?)dup
NC_000011.9:g.(?_66290917)_(66294288_?)dup
NC_000015.9:g.(?_73020261)_(73020355_?)dup
NC_000016.9:g.(?_56530859)_(56536740_?)dup
NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys) rs778777181
NM_001378454.1(ALMS1):c.4375C>T (p.Pro1459Ser)
NM_001378454.1(ALMS1):c.7580dup (p.Tyr2527Ter) rs1672034468
NM_006642.5(SDCCAG8):c.1356+1G>C rs2147782314
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)
NM_012210.4(TRIM32):c.722A>G (p.Tyr241Cys)
NM_015272.5(RPGRIP1L):c.46G>A (p.Asp16Asn)
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter) rs1668654133
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val) rs543062539
NM_015910.7(WDPCP):c.1436-1G>C rs959923850
NM_015910.7(WDPCP):c.161-1G>C
NM_015910.7(WDPCP):c.1813-2A>T rs2104772718
NM_015910.7(WDPCP):c.1915+2del
NM_015910.7(WDPCP):c.1916-2A>G rs763299856
NM_015910.7(WDPCP):c.253+1G>A
NM_015910.7(WDPCP):c.633+2T>C rs765356177
NM_015910.7(WDPCP):c.75+1G>T rs1486299333
NM_015910.7(WDPCP):c.825+1G>A
NM_024649.5(BBS1):c.1076G>C (p.Arg359Pro)
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
NM_024649.5(BBS1):c.1110+1G>C rs2134797993
NM_024649.5(BBS1):c.1110+2T>C
NM_024649.5(BBS1):c.1110+2T>G rs1565286223
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1180+1G>T
NM_024649.5(BBS1):c.1181-1G>C
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1339+1G>A
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1474-1G>A rs2134836650
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.159+1G>A
NM_024649.5(BBS1):c.159+2del rs1348187150
NM_024649.5(BBS1):c.160-1G>A
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024649.5(BBS1):c.480-2A>C rs1856035426
NM_024649.5(BBS1):c.723+1G>A
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.830+2T>A
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) rs199474722
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.146G>T (p.Arg49Leu)
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter) rs2136091512
NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs) rs1951753208
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys) rs771325212
NM_024685.4(BBS10):c.968C>T (p.Ala323Val)
NM_031885.5(BBS2):c.1062C>G (p.Asn354Lys) rs1567576202
NM_031885.5(BBS2):c.1081-1G>A rs1555522000
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
NM_031885.5(BBS2):c.118-1G>T
NM_031885.5(BBS2):c.118-2A>C
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1225+2T>C
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1397+1G>A rs1225299095
NM_031885.5(BBS2):c.1397+2T>C
NM_031885.5(BBS2):c.1527+1G>A rs2144138948
NM_031885.5(BBS2):c.1527+2T>G
NM_031885.5(BBS2):c.1528-1G>C rs2144135065
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1797G>A (p.Lys599=) rs1177431007
NM_031885.5(BBS2):c.1798-2A>G rs2144130282
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.1911-1G>A rs1555520256
NM_031885.5(BBS2):c.1911-1G>C
NM_031885.5(BBS2):c.1911-986_1914del
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly) rs1228731722
NM_031885.5(BBS2):c.345+1G>A
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.535-1G>A
NM_031885.5(BBS2):c.535-2A>G rs1555523398
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_031885.5(BBS2):c.79A>C (p.Thr27Pro)
NM_031885.5(BBS2):c.804+1G>T rs2144162056
NM_031885.5(BBS2):c.804+1_804+14del rs1202682571
NM_031885.5(BBS2):c.806T>G (p.Val269Gly) rs886039797
NM_031885.5(BBS2):c.941-2A>G
NM_033028.5(BBS4):c.1036+1G>A rs2151048301
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1234_1248+5del
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_033028.5(BBS4):c.1249-3_1259del
NM_033028.5(BBS4):c.1288G>T (p.Val430Phe)
NM_033028.5(BBS4):c.24+1G>A rs759520211
NM_033028.5(BBS4):c.24+1G>T rs759520211
NM_033028.5(BBS4):c.24+2T>G
NM_033028.5(BBS4):c.332+1G>T
NM_033028.5(BBS4):c.333-1G>C rs2065474809
NM_033028.5(BBS4):c.333-2A>C
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg) rs1595935759
NM_033028.5(BBS4):c.642+1G>A
NM_033028.5(BBS4):c.642+1G>T
NM_033028.5(BBS4):c.711+1G>A rs2151044091
NM_033028.5(BBS4):c.830G>T (p.Gly277Val) rs749017489
NM_033028.5(BBS4):c.864+1G>A
NM_033028.5(BBS4):c.865-3_865-2del
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_144596.4(TTC8):c.1387del (p.His463fs) rs2141044380
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_144596.4(TTC8):c.579+5G>A rs2140977987
NM_144596.4(TTC8):c.710+1G>A rs2140999630
NM_144596.4(TTC8):c.799-1G>T
NM_144596.4(TTC8):c.799-2A>G rs771218088
NM_144596.4(TTC8):c.910-1G>A rs2141033061
NM_144643.4(SCLT1):c.1439+1del
NM_152384.3(BBS5):c.142+1G>T rs2105291750
NM_152384.3(BBS5):c.259-1G>A
NM_152384.3(BBS5):c.259-3C>G rs564412855
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_152384.3(BBS5):c.59+5G>T
NM_152384.3(BBS5):c.60-2A>C
NM_152384.3(BBS5):c.681+1G>T
NM_152384.3(BBS5):c.817-1G>A rs1466289570
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
NM_152522.7(ARL6IP6):c.373C>T (p.Leu125Phe)
NM_152618.3(BBS12):c.1225G>A (p.Val409Met) rs1578491070
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp) rs756955366
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.880T>G (p.Tyr294Asp)
NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe) rs1396840386
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.518A>C (p.His173Pro)
NM_176824.3(BBS7):c.102+1G>T
NM_176824.3(BBS7):c.103-268_112del
NM_176824.3(BBS7):c.1305+1G>A
NM_176824.3(BBS7):c.1305+2T>A
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1512-1G>A rs2149054421
NM_176824.3(BBS7):c.166-2A>G
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
NM_176824.3(BBS7):c.1786+1G>T rs1560638613
NM_176824.3(BBS7):c.1786+2T>C
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.1329+1738C>T
NM_198428.3(BBS9):c.1433-2A>G
NM_198428.3(BBS9):c.1552+2T>A rs1563049863
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.2299-2A>C
NM_198428.3(BBS9):c.2521+1G>T
NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_198428.3(BBS9):c.702+1G>T
NM_198428.3(BBS9):c.703-1G>C
NM_198428.3(BBS9):c.703-2A>G

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