ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 628
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HGVS dbSNP
NC_000002.12:g.(?_63484584)_(63492960_?)del
NC_000007.13:g.(?_33185845)_(33185996_?)dup
NC_000007.14:g.(?_33095234)_(33146364_?)dup
NC_000007.14:g.(?_33505463)_(33505645_?)del
NC_000007.14:g.(?_33505463)_(33605226_?)del
NC_000009.11:g.(?_119460012)_(119461993_?)dup
NC_000014.8:g.(?_88852143)_(89343774_?)dup
NC_000015.10:g.(?_72676034)_(72704515_?)dup
NM_000867.5(HTR2B):c.736A>T (p.Lys246Ter) rs564438017
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) rs753620277
NM_001165927.1(MKS1):c.783C>T (p.His261=) rs201961765
NM_001278293.3(ARL6):c.*284C>A rs148380165
NM_001365068.1(ASTN2):c.2806+24653_2806+24656dup rs758130716
NM_001365068.1(ASTN2):c.2806+25258del rs886063382
NM_001365068.1(ASTN2):c.2806+26072G>A rs899549661
NM_001365068.1(ASTN2):c.2806+26075T>C rs763172140
NM_001365068.1(ASTN2):c.2806+26099T>C rs1462453134
NM_001365068.1(ASTN2):c.2806+26147C>T rs1360716233
NM_001365068.1(ASTN2):c.2806+26172C>T rs746299779
NM_001365068.1(ASTN2):c.2806+26191C>T rs199704873
NM_001365068.1(ASTN2):c.2806+26272C>A rs866695848
NM_001365068.1(ASTN2):c.2806+26319C>T rs555217187
NM_001365068.1(ASTN2):c.2806+26341C>T rs138056275
NM_001365068.1(ASTN2):c.2806+26346del rs1564218190
NM_001365068.1(ASTN2):c.2806+26387C>T rs946701093
NM_001365068.1(ASTN2):c.2806+26410C>T rs761503419
NM_001365068.1(ASTN2):c.2806+26450C>T rs368901621
NM_001365068.1(ASTN2):c.2806+26541G>C rs371233848
NM_001365068.1(ASTN2):c.2806+26642C>G rs886043897
NM_001365068.1(ASTN2):c.2806+26645C>T rs772922696
NM_001365068.1(ASTN2):c.2806+26675G>A rs747067557
NM_001365068.1(ASTN2):c.2806+26803C>T rs145828717
NM_001365068.1(ASTN2):c.2806+26804G>A rs765158423
NM_001365068.1(ASTN2):c.2806+26806C>T rs183136193
NM_001365068.1(ASTN2):c.2806+26833G>A rs1182257457
NM_001365068.1(ASTN2):c.2806+26848C>T rs121434447
NM_001365068.1(ASTN2):c.2806+26861G>A rs754554333
NM_001365068.1(ASTN2):c.2806+26867C>T rs886042328
NM_001365068.1(ASTN2):c.2806+26983G>C rs774316527
NM_001365068.1(ASTN2):c.2806+26987C>A rs771427815
NM_001365068.1(ASTN2):c.2806+26990C>G rs1564217118
NM_001365068.1(ASTN2):c.2806+27017C>T rs141806013
NM_001365068.1(ASTN2):c.2806+27025C>T rs778321975
NM_001365068.1(ASTN2):c.2806+27043G>A rs377510422
NM_001365068.1(ASTN2):c.2806+27050T>C rs373287765
NM_001365068.1(ASTN2):c.2806+27091G>A rs794727284
NM_001365068.1(ASTN2):c.2806+27122C>T rs144532174
NM_001365068.1(ASTN2):c.2806+27140T>C rs759742371
NM_001365068.1(ASTN2):c.2806+27154C>T rs1554732992
NM_001365068.1(ASTN2):c.2806+27156A>C rs766687896
NM_001365068.1(ASTN2):c.2806+27166G>T rs367574371
NM_001365068.1(ASTN2):c.2806+27217C>T rs773872830
NM_001365068.1(ASTN2):c.2806+27329G>T rs886043553
NM_001365068.1(ASTN2):c.2806+27341T>C rs139113969
NM_001365068.1(ASTN2):c.2806+27379T>C rs374248541
NM_001365068.1(ASTN2):c.2806+27508G>A rs138699534
NM_001365068.1(ASTN2):c.2806+27532C>T rs759945386
NM_001365068.1(ASTN2):c.2806+27533G>A rs752016708
NM_001365068.1(ASTN2):c.2806+27541A>G rs775940650
NM_001365068.1(ASTN2):c.2806+27549C>T rs200196832
NM_001365068.1(ASTN2):c.2806+27550A>C rs199699832
NM_001365068.1(ASTN2):c.2806+27550A>G rs199699832
NM_001365068.1(ASTN2):c.2806+27562A>G rs145907585
NM_001365068.1(ASTN2):c.2806+27565C>T rs777914761
NM_001365068.1(ASTN2):c.2806+27589C>T rs552938001
NM_001365068.1(ASTN2):c.2806+27616A>C rs918796736
NM_001365068.1(ASTN2):c.2806+27625G>A rs141953092
NM_001365068.1(ASTN2):c.2806+27652G>A rs755478136
NM_001365068.1(ASTN2):c.2806+27692G>A rs762785784
NM_001365068.1(ASTN2):c.2806+27699T>C rs770015462
NM_001365068.1(ASTN2):c.2806+27713G>A rs1390593037
NM_001365068.1(ASTN2):c.2806+27737G>T rs201877419
NM_001365068.1(ASTN2):c.2806+27772A>G rs200326473
NM_001365068.1(ASTN2):c.2806+27865C>A rs1564215128
NM_001365068.1(ASTN2):c.2806+27902T>C rs764366522
NM_001365068.1(ASTN2):c.2806+27960G>A rs575633576
NM_001365068.1(ASTN2):c.2806+27985C>T rs1341334730
NM_001365068.1(ASTN2):c.2806+27986G>A rs1202455552
NM_005269.3(GLI1):c.820G>C (p.Gly274Arg) rs563340967
NM_005465.7(AKT3):c.*5155_*5159dup rs577416381
NM_006642.5(SDCCAG8):c.*214_*217dup rs1057515485
NM_006642.5(SDCCAG8):c.*287A>G rs1057515459
NM_006642.5(SDCCAG8):c.*62_*66dup rs368945100
NM_012210.4(TRIM32):c.1081A>T (p.Met361Leu)
NM_012210.4(TRIM32):c.1110G>A (p.Met370Ile)
NM_012210.4(TRIM32):c.1361T>C (p.Val454Ala)
NM_012210.4(TRIM32):c.1400G>C (p.Ser467Thr)
NM_012210.4(TRIM32):c.1544G>A (p.Arg515Gln)
NM_012210.4(TRIM32):c.1551A>G (p.Lys517=)
NM_012210.4(TRIM32):c.1695T>G (p.Ile565Met)
NM_012210.4(TRIM32):c.1709C>T (p.Ser570Leu)
NM_012210.4(TRIM32):c.176T>C (p.Val59Ala)
NM_012210.4(TRIM32):c.1855C>T (p.Pro619Ser)
NM_012210.4(TRIM32):c.1874C>T (p.Thr625Ile)
NM_012210.4(TRIM32):c.1931G>T (p.Ser644Ile)
NM_012210.4(TRIM32):c.1934A>G (p.Tyr645Cys)
NM_012210.4(TRIM32):c.1948T>C (p.Tyr650His)
NM_012210.4(TRIM32):c.1959A>G (p.Pro653=)
NM_012210.4(TRIM32):c.206G>A (p.Arg69His)
NM_012210.4(TRIM32):c.232G>A (p.Asp78Asn)
NM_012210.4(TRIM32):c.236A>G (p.Asn79Ser)
NM_012210.4(TRIM32):c.244G>A (p.Val82Met)
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr)
NM_012210.4(TRIM32):c.276C>A (p.Ser92Arg)
NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys)
NM_012210.4(TRIM32):c.280G>A (p.Ala94Thr)
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln)
NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp)
NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro)
NM_012210.4(TRIM32):c.347G>A (p.Gly116Asp)
NM_012210.4(TRIM32):c.398A>G (p.His133Arg)
NM_012210.4(TRIM32):c.40C>T (p.Leu14Phe)
NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln)
NM_012210.4(TRIM32):c.480G>C (p.Met160Ile)
NM_012210.4(TRIM32):c.494G>T (p.Arg165Leu)
NM_012210.4(TRIM32):c.55G>C (p.Glu19Gln)
NM_012210.4(TRIM32):c.578G>A (p.Arg193His)
NM_012210.4(TRIM32):c.737T>C (p.Ile246Thr)
NM_012210.4(TRIM32):c.781G>A (p.Glu261Lys)
NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys)
NM_015910.6(WDPCP):c.-227C>G rs376940318
NM_015910.6(WDPCP):c.-301G>A rs886056227
NM_015910.6(WDPCP):c.-322delT rs886056228
NM_015910.7(WDPCP):c.*138_*141GTTT[1] rs886056221
NM_015910.7(WDPCP):c.*586_*587AG[2] rs886056220
NM_015910.7(WDPCP):c.*604_*605del rs886056219
NM_015910.7(WDPCP):c.-108_-106GCG[6] rs563531309
NM_015910.7(WDPCP):c.1028G>A (p.Cys343Tyr)
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623
NM_015910.7(WDPCP):c.10G>A (p.Glu4Lys)
NM_015910.7(WDPCP):c.1102C>T (p.Arg368Cys) rs769112221
NM_015910.7(WDPCP):c.1166G>A (p.Gly389Asp) rs1575343526
NM_015910.7(WDPCP):c.1206A>T (p.Gln402His)
NM_015910.7(WDPCP):c.1242A>G (p.Gln414=)
NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys)
NM_015910.7(WDPCP):c.1267A>G (p.Arg423Gly)
NM_015910.7(WDPCP):c.130T>C (p.Trp44Arg)
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg)
NM_015910.7(WDPCP):c.1356G>T (p.Lys452Asn)
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) rs768802269
NM_015910.7(WDPCP):c.1436-4A>G
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) rs201412509
NM_015910.7(WDPCP):c.1451G>A (p.Gly484Glu)
NM_015910.7(WDPCP):c.1530C>A (p.Ser510Arg)
NM_015910.7(WDPCP):c.1591_1593CTT[1] (p.Leu532del) rs748711953
NM_015910.7(WDPCP):c.159G>A (p.Ala53=) rs192196713
NM_015910.7(WDPCP):c.1625-3C>T
NM_015910.7(WDPCP):c.166G>C (p.Asp56His)
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val)
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val) rs141845729
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)
NM_015910.7(WDPCP):c.1798C>G (p.Arg600Gly)
NM_015910.7(WDPCP):c.1813-3C>T
NM_015910.7(WDPCP):c.1849G>A (p.Ala617Thr)
NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu)
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val) rs759281211
NM_015910.7(WDPCP):c.1951A>C (p.Asn651His)
NM_015910.7(WDPCP):c.208+1G>A
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser) rs369786224
NM_015910.7(WDPCP):c.218A>G (p.His73Arg)
NM_015910.7(WDPCP):c.2192A>T (p.Glu731Val)
NM_015910.7(WDPCP):c.2230G>A (p.Gly744Ser)
NM_015910.7(WDPCP):c.272C>T (p.Thr91Met) rs753130718
NM_015910.7(WDPCP):c.308C>T (p.Ser103Leu)
NM_015910.7(WDPCP):c.316G>C (p.Glu106Gln)
NM_015910.7(WDPCP):c.333G>A (p.Met111Ile)
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu)
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe)
NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg)
NM_015910.7(WDPCP):c.551T>C (p.Leu184Pro)
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val)
NM_015910.7(WDPCP):c.728C>T (p.Pro243Leu)
NM_015910.7(WDPCP):c.760_786del (p.Pro254_Ala262del) rs774995085
NM_015910.7(WDPCP):c.805T>C (p.Tyr269His)
NM_015910.7(WDPCP):c.842G>A (p.Arg281His)
NM_015910.7(WDPCP):c.845C>G (p.Thr282Arg)
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597
NM_015910.7(WDPCP):c.955T>G (p.Tyr319Asp) rs863224771
NM_015910.7(WDPCP):c.967C>T (p.Arg323Trp)
NM_018848.3(MKKS):c.-417-20dup rs528193828
NM_018848.3(MKKS):c.-781del rs566962031
NM_018848.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542
NM_024296.4(CCDC28B):c.330C>T (p.Phe110=) rs41263993
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.1016A>T (p.His339Leu) rs1389335279
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu)
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) rs772235333
NM_024649.5(BBS1):c.1243G>A (p.Val415Met)
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys)
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser)
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro)
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg)
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560
NM_024649.5(BBS1):c.175C>G (p.Leu59Val)
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) rs761304709
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg)
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
NM_024649.5(BBS1):c.230T>C (p.Met77Thr)
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu)
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr)
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
NM_024649.5(BBS1):c.432+5A>G
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)
NM_024649.5(BBS1):c.518+5G>A
NM_024649.5(BBS1):c.569A>T (p.Lys190Met) rs778672601
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser)
NM_024649.5(BBS1):c.592-7_592-5del
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
NM_024649.5(BBS1):c.725T>C (p.Met242Thr)
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)
NM_024649.5(BBS1):c.739G>A (p.Val247Ile)
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu)
NM_024649.5(BBS1):c.77C>T (p.Ala26Val)
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101
NM_024649.5(BBS1):c.901G>A (p.Val301Ile)
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*177T>G rs189856910
NM_024685.4(BBS10):c.*641_*642AT[2] rs886049845
NM_024685.4(BBS10):c.-66C>T rs886049854
NM_024685.4(BBS10):c.-71C>T rs569445445
NM_024685.4(BBS10):c.1010_1012AAG[1] (p.Glu338del)
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr)
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser)
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp)
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1211A>G (p.His404Arg)
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr)
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu)
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe)
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys)
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly)
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp)
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys)
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr)
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu)
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val) rs748647079
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)
NM_024685.4(BBS10):c.198-3C>T
NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn)
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter)
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)
NM_024685.4(BBS10):c.344C>T (p.Thr115Ile)
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala)
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg)
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser) rs1592492746
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe)
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu)
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861
NM_024685.4(BBS10):c.434T>C (p.Met145Thr)
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del)
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys)
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791
NM_024685.4(BBS10):c.763A>G (p.Met255Val)
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr)
NM_024685.4(BBS10):c.92C>T (p.Pro31Leu)
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly)
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_031885.4(BBS2):c.-146G>A rs886052153
NM_031885.4(BBS2):c.109A>G (p.Thr37Ala) rs1284353332
NM_031885.4(BBS2):c.118-16_118-13del rs758674101
NM_031885.4(BBS2):c.1885G>A (p.Glu629Lys) rs746505864
NM_031885.4(BBS2):c.1894C>T (p.Arg632Cys) rs200021475
NM_031885.4(BBS2):c.1953T>C (p.Asn651=) rs200621431
NM_031885.4(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.358G>A (p.Ala120Thr) rs148808295
NM_031885.4(BBS2):c.471+3_471+4delinsCA rs1567582876
NM_031885.4(BBS2):c.642C>T (p.Gly214=) rs141563594
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.4(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.4(BBS2):c.986T>C (p.Met329Thr) rs201146063
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
NM_031885.5(BBS2):c.117+5C>T
NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro)
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly)
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val)
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly)
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)
NM_031885.5(BBS2):c.1527+5G>C
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)
NM_031885.5(BBS2):c.1690G>A (p.Ala564Thr)
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)
NM_031885.5(BBS2):c.1797G>A (p.Lys599=)
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)
NM_031885.5(BBS2):c.184C>G (p.Leu62Val)
NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala)
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)
NM_031885.5(BBS2):c.1982G>A (p.Arg661His)
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln)
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr)
NM_031885.5(BBS2):c.269A>G (p.Asp90Gly)
NM_031885.5(BBS2):c.35A>G (p.His12Arg)
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)
NM_031885.5(BBS2):c.581A>G (p.Asp194Gly)
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585
NM_031885.5(BBS2):c.68G>C (p.Arg23Pro)
NM_031885.5(BBS2):c.717+5G>A
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
NM_031885.5(BBS2):c.983T>A (p.Leu328His)
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn)
NM_033028.5(BBS4):c.*855_*856del rs748809330
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)
NM_033028.5(BBS4):c.1107G>A (p.Lys369=)
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn)
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)
NM_033028.5(BBS4):c.1248+4T>C
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr)
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro) rs749034070
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln)
NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly)
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys) rs145168232
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser)
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)
NM_033028.5(BBS4):c.405+6T>C
NM_033028.5(BBS4):c.461C>T (p.Ala154Val)
NM_033028.5(BBS4):c.463C>A (p.Gln155Lys)
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu) rs1177848403
NM_033028.5(BBS4):c.502G>A (p.Asp168Asn)
NM_033028.5(BBS4):c.514A>G (p.Ile172Val) rs145265395
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp) rs727503820
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr)
NM_033028.5(BBS4):c.994A>G (p.Asn332Asp)
NM_144596.4(TTC8):c.1050G>T (p.Arg350Ser)
NM_144596.4(TTC8):c.1063A>T (p.Met355Leu)
NM_144596.4(TTC8):c.1118C>A (p.Ala373Asp)
NM_144596.4(TTC8):c.1124A>C (p.Gln375Pro) rs774216735
NM_144596.4(TTC8):c.113A>G (p.Gln38Arg)
NM_144596.4(TTC8):c.114+6G>C
NM_144596.4(TTC8):c.1147T>C (p.Phe383Leu)
NM_144596.4(TTC8):c.1215T>G (p.His405Gln)
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr)
NM_144596.4(TTC8):c.1276AAC[5] (p.Asn429dup)
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys)
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625
NM_144596.4(TTC8):c.1363C>G (p.Gln455Glu)
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291
NM_144596.4(TTC8):c.1432A>T (p.Ile478Phe)
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478
NM_144596.4(TTC8):c.293G>A (p.Gly98Glu)
NM_144596.4(TTC8):c.355A>G (p.Ile119Val)
NM_144596.4(TTC8):c.361G>A (p.Gly121Ser) rs771327965
NM_144596.4(TTC8):c.380C>A (p.Thr127Lys)
NM_144596.4(TTC8):c.386G>A (p.Ser129Asn)
NM_144596.4(TTC8):c.415A>G (p.Ile139Val)
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754
NM_144596.4(TTC8):c.470G>C (p.Arg157Thr) rs754686957
NM_144596.4(TTC8):c.484G>C (p.Gly162Arg) rs753150258
NM_144596.4(TTC8):c.488C>T (p.Thr163Met)
NM_144596.4(TTC8):c.490G>A (p.Ala164Thr) rs184952059
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)
NM_144596.4(TTC8):c.715G>C (p.Gly239Arg)
NM_144596.4(TTC8):c.727G>A (p.Glu243Lys) rs1419727328
NM_144596.4(TTC8):c.83C>A (p.Thr28Lys)
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe)
NM_144596.4(TTC8):c.874G>A (p.Val292Ile)
NM_144596.4(TTC8):c.909G>C (p.Glu303Asp)
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr)
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707
NM_152384.3(BBS5):c.208+5G>T
NM_152384.3(BBS5):c.25G>C (p.Glu9Gln)
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln)
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile)
NM_152384.3(BBS5):c.475C>T (p.His159Tyr)
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser) rs758508869
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)
NM_152384.3(BBS5):c.689G>A (p.Gly230Glu)
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys)
NM_152384.3(BBS5):c.814A>G (p.Lys272Glu)
NM_152384.3(BBS5):c.817-10T>A
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)
NM_152384.3(BBS5):c.935G>A (p.Arg312His)
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg)
NM_152618.3(BBS12):c.1225G>A (p.Val409Met) rs1578491070
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849
NM_152618.3(BBS12):c.1262G>A (p.Arg421His)
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln)
NM_152618.3(BBS12):c.1297G>A (p.Val433Ile)
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg)
NM_152618.3(BBS12):c.1382A>G (p.Asn461Ser)
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg)
NM_152618.3(BBS12):c.1407C>G (p.Val469=)
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys)
NM_152618.3(BBS12):c.1653T>G (p.His551Gln)
NM_152618.3(BBS12):c.1660G>T (p.Ala554Ser)
NM_152618.3(BBS12):c.1844C>A (p.Ala615Asp)
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser)
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546
NM_152618.3(BBS12):c.19G>A (p.Val7Ile)
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842
NM_152618.3(BBS12):c.2037A>T (p.Leu679Phe) rs1553941612
NM_152618.3(BBS12):c.2062A>G (p.Ser688Gly)
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
NM_152618.3(BBS12):c.2117G>C (p.Gly706Ala)
NM_152618.3(BBS12):c.2132_*1del (p.Ter711Xaa) rs1578492553
NM_152618.3(BBS12):c.274G>A (p.Val92Ile)
NM_152618.3(BBS12):c.344T>C (p.Val115Ala)
NM_152618.3(BBS12):c.433A>G (p.Lys145Glu)
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg)
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr)
NM_152618.3(BBS12):c.68C>T (p.Ala23Val)
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala)
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp)
NM_152618.3(BBS12):c.908A>G (p.Asn303Ser)
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
NM_152618.3(BBS12):c.978_979inv (p.Ser327Thr)
NM_176824.3(BBS7):c.*1209_*1211del rs886059048
NM_176824.3(BBS7):c.1024A>G (p.Ile342Val)
NM_176824.3(BBS7):c.1036C>T (p.Arg346Trp)
NM_176824.3(BBS7):c.1038G>A (p.Arg346=)
NM_176824.3(BBS7):c.1142T>C (p.Ile381Thr)
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn)
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
NM_176824.3(BBS7):c.1289G>A (p.Ser430Asn)
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
NM_176824.3(BBS7):c.1410A>G (p.Ala470=)
NM_176824.3(BBS7):c.1421C>G (p.Pro474Arg)
NM_176824.3(BBS7):c.1487G>A (p.Arg496Lys)
NM_176824.3(BBS7):c.148A>G (p.Lys50Glu)
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly)
NM_176824.3(BBS7):c.1592T>C (p.Val531Ala)
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362
NM_176824.3(BBS7):c.1604C>T (p.Pro535Leu)
NM_176824.3(BBS7):c.1691T>C (p.Val564Ala)
NM_176824.3(BBS7):c.1890+6T>C rs1553930514
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021
NM_176824.3(BBS7):c.223A>G (p.Ile75Val) rs138872188
NM_176824.3(BBS7):c.257C>T (p.Ala86Val)
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly)
NM_176824.3(BBS7):c.340A>C (p.Met114Leu)
NM_176824.3(BBS7):c.342-3C>G rs1244071022
NM_176824.3(BBS7):c.454T>C (p.Cys152Arg) rs863224814
NM_176824.3(BBS7):c.479G>A (p.Arg160His)
NM_176824.3(BBS7):c.508A>G (p.Arg170Gly)
NM_176824.3(BBS7):c.578T>C (p.Leu193Ser)
NM_176824.3(BBS7):c.601+3A>G
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)
NM_176824.3(BBS7):c.748G>T (p.Val250Leu)
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr)
NM_176824.3(BBS7):c.785A>G (p.Asp262Gly)
NM_176824.3(BBS7):c.794T>C (p.Met265Thr)
NM_176824.3(BBS7):c.821C>T (p.Ala274Val)
NM_176824.3(BBS7):c.852G>A (p.Met284Ile)
NM_176824.3(BBS7):c.863G>A (p.Ser288Asn)
NM_176824.3(BBS7):c.964A>G (p.Ile322Val)
NM_176824.3(BBS7):c.976A>G (p.Ser326Gly) rs863224815
NM_198428.3(BBS9):c.*778_*780dup rs886062289
NM_198428.3(BBS9):c.-37dup rs886062282
NM_198428.3(BBS9):c.1103C>T (p.Ala368Val)
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala)
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile)
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp)
NM_198428.3(BBS9):c.1249G>C (p.Val417Leu)
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe)
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp)
NM_198428.3(BBS9):c.138G>A (p.Met46Ile) rs145241295
NM_198428.3(BBS9):c.145C>G (p.Leu49Val)
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His) rs760084192
NM_198428.3(BBS9):c.1480A>T (p.Ser494Cys)
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile) rs139303948
NM_198428.3(BBS9):c.1538-7T>G rs375661214
NM_198428.3(BBS9):c.1558C>T (p.Pro520Ser)
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385
NM_198428.3(BBS9):c.155T>G (p.Phe52Cys)
NM_198428.3(BBS9):c.1562G>C (p.Arg521Pro)
NM_198428.3(BBS9):c.1670T>G (p.Val557Gly)
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr)
NM_198428.3(BBS9):c.174A>G (p.Lys58=)
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) rs143016114
NM_198428.3(BBS9):c.1799G>A (p.Arg600His)
NM_198428.3(BBS9):c.1808G>C (p.Ser603Thr)
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met)
NM_198428.3(BBS9):c.1911G>A (p.Ser637=) rs138454676
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val) rs144112103
NM_198428.3(BBS9):c.1928A>G (p.Gln643Arg)
NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly) rs201876934
NM_198428.3(BBS9):c.1962+3A>T
NM_198428.3(BBS9):c.1963-6T>C
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys)
NM_198428.3(BBS9):c.2035C>T (p.Arg679Trp)
NM_198428.3(BBS9):c.2088C>A (p.Asp696Glu)
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn)
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu)
NM_198428.3(BBS9):c.2245G>C (p.Val749Leu) rs1563271285
NM_198428.3(BBS9):c.2294A>G (p.Glu765Gly) rs140882212
NM_198428.3(BBS9):c.2298+5G>A
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu)
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser)
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) rs137993290
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe)
NM_198428.3(BBS9):c.2468G>A (p.Gly823Asp)
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638
NM_198428.3(BBS9):c.2581A>T (p.Thr861Ser)
NM_198428.3(BBS9):c.2591T>G (p.Phe864Cys)
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser)
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095
NM_198428.3(BBS9):c.2633-2A>G
NM_198428.3(BBS9):c.2633-3C>G
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe)
NM_198428.3(BBS9):c.2654T>C (p.Val885Ala)
NM_198428.3(BBS9):c.341A>G (p.Asn114Ser)
NM_198428.3(BBS9):c.396G>C (p.Gln132His)
NM_198428.3(BBS9):c.410A>G (p.Asn137Ser)
NM_198428.3(BBS9):c.485T>C (p.Met162Thr)
NM_198428.3(BBS9):c.565C>T (p.Arg189Cys)
NM_198428.3(BBS9):c.58T>G (p.Phe20Val) rs779638896
NM_198428.3(BBS9):c.660_674del (p.Glu221_Gln225del)
NM_198428.3(BBS9):c.677A>C (p.Lys226Thr)
NM_198428.3(BBS9):c.688G>A (p.Gly230Arg)
NM_198428.3(BBS9):c.742A>C (p.Ile248Leu)
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)
NM_198428.3(BBS9):c.767C>T (p.Ser256Leu) rs149790873
NM_198428.3(BBS9):c.778G>T (p.Val260Phe)
NM_198428.3(BBS9):c.802T>A (p.Phe268Ile)
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly) rs1264926096
NM_198428.3(BBS9):c.83C>T (p.Ala28Val)
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg)

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