ClinVar Miner

List of variants studied for BBS9-related ciliopathy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 386
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.1330-62C>T rs9785054 0.99157
NM_198428.3(BBS9):c.1329+1606C>T rs6974593 0.97489
NM_198428.3(BBS9):c.*110C>T rs1050721 0.45678
NM_198428.3(BBS9):c.*103T>C rs1050719 0.41125
NM_198428.3(BBS9):c.1275+13G>T rs11981364 0.26303
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_198428.3(BBS9):c.263+39A>G rs17169881 0.16213
NM_198428.3(BBS9):c.-407C>G rs3750123 0.15979
NM_198428.3(BBS9):c.-12+7T>C rs1468797 0.15507
NM_198428.3(BBS9):c.-259G>A rs73095326 0.10383
NM_198428.3(BBS9):c.1017-6T>C rs61756571 0.03520
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153 0.02890
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382 0.02834
NM_198428.3(BBS9):c.*549A>G rs73690947 0.01710
NM_198428.3(BBS9):c.*138A>C rs59454255 0.01586
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01536
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440 0.01355
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904 0.01182
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_198428.3(BBS9):c.*371G>A rs79271934 0.00768
NM_198428.3(BBS9):c.1694-6T>C rs28622379 0.00710
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00708
NM_198428.3(BBS9):c.-305T>G rs112060099 0.00592
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00584
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_198428.3(BBS9):c.*453C>G rs74748415 0.00361
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245 0.00344
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00223
NM_198428.3(BBS9):c.*336A>G rs578208457 0.00135
NM_198428.3(BBS9):c.2521+951G>T rs543546818 0.00097
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527 0.00084
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061 0.00081
NM_198428.3(BBS9):c.-429G>C rs184271281 0.00076
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_198428.3(BBS9):c.-397G>A rs561901329 0.00070
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00068
NM_198428.3(BBS9):c.*29A>G rs373446119 0.00061
NM_198428.3(BBS9):c.1432+7T>G rs150963080 0.00058
NM_198428.3(BBS9):c.*589G>A rs548920550 0.00056
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066 0.00054
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00051
NM_198428.3(BBS9):c.2294A>G (p.Glu765Gly) rs140882212 0.00037
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891 0.00037
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811 0.00031
NM_198428.3(BBS9):c.*444G>A rs75625812 0.00030
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162 0.00030
NM_198428.3(BBS9):c.2115+20C>T rs779186804 0.00028
NM_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161 0.00026
NM_198428.3(BBS9):c.2211G>A (p.Leu737=) rs144672900 0.00024
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391 0.00022
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385 0.00019
NM_198428.3(BBS9):c.886+14T>G rs368019366 0.00019
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00018
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln) rs149042169 0.00014
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719 0.00013
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala) rs138436479 0.00012
NM_198428.3(BBS9):c.1790-1091A>G rs925605225 0.00012
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile) rs139303948 0.00011
NM_198428.3(BBS9):c.2022G>T (p.Arg674=) rs561957887 0.00011
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) rs137993290 0.00011
NM_198428.3(BBS9):c.862A>G (p.Ser288Gly) rs146770174 0.00011
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp) rs369647403 0.00011
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776 0.00010
NM_198428.3(BBS9):c.436G>A (p.Val146Ile) rs372412756 0.00010
NM_198428.3(BBS9):c.1610C>T (p.Pro537Leu) rs1486252113 0.00009
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133 0.00009
NM_198428.3(BBS9):c.1538-9G>T rs770317221 0.00008
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00008
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) rs143016114 0.00007
NM_198428.3(BBS9):c.2033G>A (p.Arg678His) rs200654248 0.00007
NM_198428.3(BBS9):c.2313G>A (p.Thr771=) rs374269883 0.00007
NM_198428.3(BBS9):c.443-37371A>G rs978516871 0.00007
NM_198428.3(BBS9):c.-206T>G rs953412791 0.00006
NM_198428.3(BBS9):c.138G>A (p.Met46Ile) rs145241295 0.00006
NM_198428.3(BBS9):c.1560G>A (p.Pro520=) rs779586578 0.00006
NM_198428.3(BBS9):c.2115+19A>G rs184420556 0.00006
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln) rs754343745 0.00006
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter) rs928813600 0.00006
NM_198428.3(BBS9):c.-447A>C rs886062278 0.00005
NM_198428.3(BBS9):c.1236C>T (p.Asn412=) rs139235142 0.00005
NM_198428.3(BBS9):c.1276-17C>T rs199758277 0.00005
NM_198428.3(BBS9):c.2358G>C (p.Lys786Asn) rs377403564 0.00005
NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn) rs781476538 0.00005
NM_198428.3(BBS9):c.270C>T (p.Thr90=) rs747398844 0.00005
NM_198428.3(BBS9):c.663G>T (p.Glu221Asp) rs767766656 0.00005
NM_198428.3(BBS9):c.*337C>T rs1188169231 0.00004
NM_198428.3(BBS9):c.*406A>G rs748029581 0.00004
NM_198428.3(BBS9):c.1198+13C>T rs753894974 0.00004
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp) rs1312526837 0.00004
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp) rs767170924 0.00004
NM_198428.3(BBS9):c.1322C>T (p.Thr441Met) rs140675013 0.00004
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His) rs760084192 0.00004
NM_198428.3(BBS9):c.1553-11T>C rs756802547 0.00004
NM_198428.3(BBS9):c.1611A>C (p.Pro537=) rs140411078 0.00004
NM_198428.3(BBS9):c.2020C>T (p.Arg674Trp) rs368526968 0.00004
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095 0.00004
NM_198428.3(BBS9):c.559A>G (p.Ser187Gly) rs771447042 0.00004
NM_198428.3(BBS9):c.58T>G (p.Phe20Val) rs779638896 0.00004
NM_198428.3(BBS9):c.715C>T (p.Leu239=) rs751112173 0.00004
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg) rs377207430 0.00004
NM_198428.3(BBS9):c.1264G>T (p.Asp422Tyr) rs140198337 0.00003
NM_198428.3(BBS9):c.1480A>T (p.Ser494Cys) rs765846163 0.00003
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555 0.00003
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr) rs537110423 0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 0.00003
NM_198428.3(BBS9):c.1801A>G (p.Ile601Val) rs377588119 0.00003
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter) rs769256027 0.00003
NM_198428.3(BBS9):c.2021G>A (p.Arg674Gln) rs555671554 0.00003
NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile) rs749948775 0.00003
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu) rs757754301 0.00003
NM_198428.3(BBS9):c.2312C>T (p.Thr771Met) rs370662412 0.00003
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe) rs779871496 0.00003
NM_198428.3(BBS9):c.2487C>T (p.Thr829=) rs746373450 0.00003
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638 0.00003
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708 0.00003
NM_198428.3(BBS9):c.2605C>T (p.His869Tyr) rs938197989 0.00003
NM_198428.3(BBS9):c.2657C>T (p.Ser886Leu) rs779169794 0.00003
NM_198428.3(BBS9):c.528T>A (p.Pro176=) rs757308943 0.00003
NM_198428.3(BBS9):c.566G>A (p.Arg189His) rs547643751 0.00003
NM_198428.3(BBS9):c.702+6G>A rs777329822 0.00003
NM_198428.3(BBS9):c.1377C>T (p.Val459=) rs763552337 0.00002
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile) rs1443035026 0.00002
NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys) rs775703296 0.00002
NM_198428.3(BBS9):c.1966C>T (p.Arg656Trp) rs762045410 0.00002
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr) rs772347593 0.00002
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu) rs760800602 0.00002
NM_198428.3(BBS9):c.2468G>A (p.Gly823Asp) rs1176589347 0.00002
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe) rs950624105 0.00002
NM_198428.3(BBS9):c.335T>C (p.Leu112Ser) rs904098347 0.00002
NM_198428.3(BBS9):c.529G>T (p.Gly177Cys) rs750278720 0.00002
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly) rs1264926096 0.00002
NM_198428.3(BBS9):c.*12T>C rs770978235 0.00001
NM_198428.3(BBS9):c.*585C>T rs1273092896 0.00001
NM_198428.3(BBS9):c.*801G>A rs1216449046 0.00001
NM_198428.3(BBS9):c.-163G>C rs886062281 0.00001
NM_198428.3(BBS9):c.-271G>A rs886062280 0.00001
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter) rs372905559 0.00001
NM_198428.3(BBS9):c.1033A>G (p.Ile345Val) rs1426530664 0.00001
NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter) rs377289479 0.00001
NM_198428.3(BBS9):c.1111G>A (p.Val371Ile) rs1366355966 0.00001
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter) rs998200637 0.00001
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter) rs370729939 0.00001
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile) rs1030973947 0.00001
NM_198428.3(BBS9):c.1175del (p.Ile392fs) rs1815414782 0.00001
NM_198428.3(BBS9):c.1183G>A (p.Val395Ile) rs1300725879 0.00001
NM_198428.3(BBS9):c.1210A>G (p.Met404Val) rs779666112 0.00001
NM_198428.3(BBS9):c.122T>G (p.Ile41Ser) rs1381039813 0.00001
NM_198428.3(BBS9):c.1323G>A (p.Thr441=) rs1044033927 0.00001
NM_198428.3(BBS9):c.1329+5T>C rs200033003 0.00001
NM_198428.3(BBS9):c.1330-10G>T rs779072984 0.00001
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr) rs773192233 0.00001
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626 0.00001
NM_198428.3(BBS9):c.1379A>G (p.Tyr460Cys) rs377149733 0.00001
NM_198428.3(BBS9):c.1464T>C (p.Ser488=) rs200850911 0.00001
NM_198428.3(BBS9):c.1481G>A (p.Ser494Asn) rs775868685 0.00001
NM_198428.3(BBS9):c.1537+14C>T rs754694089 0.00001
NM_198428.3(BBS9):c.1538-7T>G rs375661214 0.00001
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter) rs748601675 0.00001
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr) rs1326810030 0.00001
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala) rs1310602174 0.00001
NM_198428.3(BBS9):c.1693+1G>A rs1295000119 0.00001
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225 0.00001
NM_198428.3(BBS9):c.1790-7C>T rs746901030 0.00001
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met) rs752845007 0.00001
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly) rs370925964 0.00001
NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys) rs543113169 0.00001
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr) rs778505224 0.00001
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu) rs771777721 0.00001
NM_198428.3(BBS9):c.1911G>A (p.Ser637=) rs138454676 0.00001
NM_198428.3(BBS9):c.1928A>G (p.Gln643Arg) rs1048014676 0.00001
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys) rs746543061 0.00001
NM_198428.3(BBS9):c.2036G>A (p.Arg679Gln) rs768958916 0.00001
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072 0.00001
NM_198428.3(BBS9):c.2115+17dup rs1826376756 0.00001
NM_198428.3(BBS9):c.2134G>A (p.Ala712Thr) rs751173437 0.00001
NM_198428.3(BBS9):c.214del (p.Val72fs) rs1384578916 0.00001
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00001
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal) rs752782918 0.00001
NM_198428.3(BBS9):c.2299-2A>C rs1251539456 0.00001
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu) rs1402083567 0.00001
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser) rs774701632 0.00001
NM_198428.3(BBS9):c.2448C>T (p.Cys816=) rs375606348 0.00001
NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala) rs545725547 0.00001
NM_198428.3(BBS9):c.2566G>T (p.Val856Leu) rs764122627 0.00001
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser) rs755911247 0.00001
NM_198428.3(BBS9):c.263+1G>A rs137962929 0.00001
NM_198428.3(BBS9):c.2633-15T>C rs757904510 0.00001
NM_198428.3(BBS9):c.263C>T (p.Ser88Leu) rs749974697 0.00001
NM_198428.3(BBS9):c.272A>T (p.Glu91Val) rs886062283 0.00001
NM_198428.3(BBS9):c.349C>T (p.His117Tyr) rs780063415 0.00001
NM_198428.3(BBS9):c.397A>G (p.Arg133Gly) rs759120113 0.00001
NM_198428.3(BBS9):c.442+1G>C rs587777811 0.00001
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter) rs781174906 0.00001
NM_198428.3(BBS9):c.469A>G (p.Met157Val) rs148763093 0.00001
NM_198428.3(BBS9):c.703-1G>A rs1800087042 0.00001
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
NM_198428.3(BBS9):c.886+7A>G rs781169371 0.00001
NM_198428.3(BBS9):c.894A>C (p.Glu298Asp) rs757469936 0.00001
NM_198428.3(BBS9):c.929A>T (p.Asn310Ile) rs1341125124 0.00001
NM_198428.3(BBS9):c.938A>G (p.His313Arg) rs533714503 0.00001
NM_198428.3(BBS9):c.940A>G (p.Ile314Val) rs372698195 0.00001
NM_198428.3(BBS9):c.979C>T (p.Pro327Ser) rs760272596 0.00001
NM_001042492.3(NF1):c.6819+1G>A rs1555534964
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
NM_198428.2:c.2115+21712_2521+234del
NM_198428.3(BBS9):c.*323A>G rs1864473091
NM_198428.3(BBS9):c.*729C>T rs1864525540
NM_198428.3(BBS9):c.-228T>G rs771734972
NM_198428.3(BBS9):c.-408T>G rs886062279
NM_198428.3(BBS9):c.-456G>A rs886062277
NM_198428.3(BBS9):c.1016+5G>T rs1800274291
NM_198428.3(BBS9):c.104_112+4del rs869025208
NM_198428.3(BBS9):c.1052A>T (p.Asp351Val) rs1815378459
NM_198428.3(BBS9):c.105T>G (p.Asn35Lys)
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.1065G>T (p.Gln355His)
NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser) rs886062285
NM_198428.3(BBS9):c.1133A>G (p.Tyr378Cys)
NM_198428.3(BBS9):c.1183_1184del (p.Asp394_Val395insTer)
NM_198428.3(BBS9):c.1189_1190insTCTTT (p.Lys397fs)
NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer) rs2535288462
NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter) rs1815419592
NM_198428.3(BBS9):c.1199-1G>A
NM_198428.3(BBS9):c.11T>A (p.Phe4Tyr) rs746345067
NM_198428.3(BBS9):c.1245C>A (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe) rs751604593
NM_198428.3(BBS9):c.1255C>G (p.Pro419Ala)
NM_198428.3(BBS9):c.1275+1G>A rs2535915961
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.1279G>T (p.Ala427Ser)
NM_198428.3(BBS9):c.1285G>A (p.Asp429Asn)
NM_198428.3(BBS9):c.128G>A (p.Gly43Asp)
NM_198428.3(BBS9):c.128del (p.Gly43fs)
NM_198428.3(BBS9):c.1307T>C (p.Leu436Pro)
NM_198428.3(BBS9):c.1313del (p.Pro438fs)
NM_198428.3(BBS9):c.1330-2A>G
NM_198428.3(BBS9):c.1344C>G (p.Asn448Lys)
NM_198428.3(BBS9):c.1351_1354del (p.Ile451fs)
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser) rs762511626
NM_198428.3(BBS9):c.1391C>T (p.Pro464Leu)
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1432+2T>G rs2535994640
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.1472T>G (p.Leu491Arg)
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) rs2128667543
NM_198428.3(BBS9):c.1486_1492del (p.Thr496fs)
NM_198428.3(BBS9):c.1489C>A (p.Pro497Thr)
NM_198428.3(BBS9):c.1525T>G (p.Ser509Ala)
NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile) rs886062286
NM_198428.3(BBS9):c.1537+3A>G
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter) rs1401715737
NM_198428.3(BBS9):c.1552+2T>A rs1563049863
NM_198428.3(BBS9):c.1552+5G>T rs1818927271
NM_198428.3(BBS9):c.1553-1G>A rs2536074802
NM_198428.3(BBS9):c.1646C>G (p.Thr549Ser) rs59252892
NM_198428.3(BBS9):c.1658A>C (p.Asn553Thr)
NM_198428.3(BBS9):c.1668A>G (p.Pro556=)
NM_198428.3(BBS9):c.1673G>A (p.Ser558Asn)
NM_198428.3(BBS9):c.1679T>C (p.Leu560Pro)
NM_198428.3(BBS9):c.1694-2A>G rs780417929
NM_198428.3(BBS9):c.1705C>T (p.Gln569Ter) rs2536170302
NM_198428.3(BBS9):c.1720C>T (p.Gln574Ter) rs2536170537
NM_198428.3(BBS9):c.1759C>G (p.Arg587Gly)
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs) rs2536171215
NM_198428.3(BBS9):c.176C>T (p.Thr59Ile)
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1789+1G>C rs201938124
NM_198428.3(BBS9):c.1790-17T>C rs765367261
NM_198428.3(BBS9):c.1790-2A>T rs2536326179
NM_198428.3(BBS9):c.1799G>A (p.Arg600His) rs749018243
NM_198428.3(BBS9):c.1805A>G (p.Gln602Arg)
NM_198428.3(BBS9):c.1810G>T (p.Glu604Ter)
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter) rs2536327415
NM_198428.3(BBS9):c.1870_1872del (p.Phe624del) rs1302171532
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.187G>A (p.Ala63Thr)
NM_198428.3(BBS9):c.1903del (p.Ser635fs) rs2536327971
NM_198428.3(BBS9):c.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter) rs2536328379
NM_198428.3(BBS9):c.195C>A (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter) rs1006435630
NM_198428.3(BBS9):c.1963-1G>T rs2536368699
NM_198428.3(BBS9):c.1967G>A (p.Arg656Gln)
NM_198428.3(BBS9):c.196G>T (p.Glu66Ter) rs773577974
NM_198428.3(BBS9):c.1987GAA[1] (p.Glu664del)
NM_198428.3(BBS9):c.1990G>T (p.Glu664Ter)
NM_198428.3(BBS9):c.19C>A (p.Arg7Ser) rs184994140
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys) rs184994140
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
NM_198428.3(BBS9):c.2014C>T (p.Gln672Ter) rs2536369263
NM_198428.3(BBS9):c.2029C>T (p.Gln677Ter)
NM_198428.3(BBS9):c.2045dup (p.Arg683fs) rs587777810
NM_198428.3(BBS9):c.2055A>T (p.Lys685Asn)
NM_198428.3(BBS9):c.2080C>T (p.His694Tyr) rs2128756856
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn) rs1274816953
NM_198428.3(BBS9):c.20G>A (p.Arg7His) rs746340993
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu) rs746340993
NM_198428.3(BBS9):c.2101G>A (p.Gly701Arg) rs2536370644
NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter) rs2536370797
NM_198428.3(BBS9):c.2116-10A>G
NM_198428.3(BBS9):c.2116-2A>T rs2537394538
NM_198428.3(BBS9):c.2120T>C (p.Ile707Thr) rs2537394608
NM_198428.3(BBS9):c.2128G>A (p.Ala710Thr)
NM_198428.3(BBS9):c.214G>A (p.Val72Met) rs765240871
NM_198428.3(BBS9):c.2150A>G (p.Gln717Arg)
NM_198428.3(BBS9):c.2153del (p.Gly718fs) rs1369313123
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn) rs1393453305
NM_198428.3(BBS9):c.2217G>T (p.Ala739=) rs749322793
NM_198428.3(BBS9):c.2222G>A (p.Trp741Ter)
NM_198428.3(BBS9):c.2245G>T (p.Val749Phe)
NM_198428.3(BBS9):c.2263G>A (p.Ala755Thr)
NM_198428.3(BBS9):c.2297T>A (p.Leu766Ter)
NM_198428.3(BBS9):c.2303G>A (p.Trp768Ter)
NM_198428.3(BBS9):c.2305G>A (p.Glu769Lys)
NM_198428.3(BBS9):c.2318A>C (p.Asp773Ala)
NM_198428.3(BBS9):c.2340G>C (p.Leu780Phe)
NM_198428.3(BBS9):c.2344A>G (p.Thr782Ala)
NM_198428.3(BBS9):c.2349C>A (p.Cys783Ter) rs2537669686
NM_198428.3(BBS9):c.2374G>T (p.Ala792Ser)
NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser) rs886062288
NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs) rs2537670864
NM_198428.3(BBS9):c.2430del (p.Lys810fs)
NM_198428.3(BBS9):c.2438C>T (p.Thr813Ile)
NM_198428.3(BBS9):c.2453G>C (p.Arg818Thr)
NM_198428.3(BBS9):c.2464G>C (p.Gly822Arg)
NM_198428.3(BBS9):c.2477G>A (p.Cys826Tyr)
NM_198428.3(BBS9):c.2503_2504dup (p.Gln835fs) rs758462362
NM_198428.3(BBS9):c.2518C>G (p.Pro840Ala)
NM_198428.3(BBS9):c.2522-1G>A
NM_198428.3(BBS9):c.2522-3T>C rs750216247
NM_198428.3(BBS9):c.2527T>C (p.Cys843Arg) rs2538378297
NM_198428.3(BBS9):c.2530A>G (p.Thr844Ala)
NM_198428.3(BBS9):c.2564C>G (p.Ser855Ter)
NM_198428.3(BBS9):c.2595_2598delinsGTTGGTAAA (p.Asn866fs)
NM_198428.3(BBS9):c.2633-2A>G rs1864417554
NM_198428.3(BBS9):c.2642C>A (p.Pro881His)
NM_198428.3(BBS9):c.2659G>A (p.Glu887Lys)
NM_198428.3(BBS9):c.302del (p.Arg101fs) rs2535328515
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.327A>G (p.Ser109=)
NM_198428.3(BBS9):c.328+20A>G rs761676028
NM_198428.3(BBS9):c.328G>A (p.Gly110Arg) rs1793995209
NM_198428.3(BBS9):c.358C>T (p.Gln120Ter) rs749403663
NM_198428.3(BBS9):c.360del (p.Gln120fs) rs2535612579
NM_198428.3(BBS9):c.385C>T (p.His129Tyr) rs886062284
NM_198428.3(BBS9):c.396G>C (p.Gln132His) rs10255104
NM_198428.3(BBS9):c.421G>A (p.Gly141Arg) rs137852857
NM_198428.3(BBS9):c.434del (p.Gly145fs) rs1408974101
NM_198428.3(BBS9):c.467C>A (p.Ser156Tyr)
NM_198428.3(BBS9):c.496C>T (p.Gln166Ter) rs1204664319
NM_198428.3(BBS9):c.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.531C>T (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.541C>T (p.Pro181Ser)
NM_198428.3(BBS9):c.542C>G (p.Pro181Arg) rs779588488
NM_198428.3(BBS9):c.544_545insTC (p.Gly182fs) rs2535000646
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe) rs2128312652
NM_198428.3(BBS9):c.580C>T (p.Leu194Phe) rs1797251379
NM_198428.3(BBS9):c.620A>T (p.Tyr207Phe)
NM_198428.3(BBS9):c.660_677delinsAAC (p.Glu221_Lys226delinsThr)
NM_198428.3(BBS9):c.672G>C (p.Gln224His)
NM_198428.3(BBS9):c.677_678dup (p.Leu227fs) rs2535095820
NM_198428.3(BBS9):c.682G>C (p.Gly228Arg)
NM_198428.3(BBS9):c.688G>A (p.Gly230Arg) rs1798450904
NM_198428.3(BBS9):c.694A>G (p.Arg232Gly)
NM_198428.3(BBS9):c.700G>A (p.Val234Ile)
NM_198428.3(BBS9):c.702+15dup rs756949696
NM_198428.3(BBS9):c.702+1G>A rs2128325966
NM_198428.3(BBS9):c.748A>G (p.Ile250Val)
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875
NM_198428.3(BBS9):c.793G>T (p.Glu265Ter) rs2535203638
NM_198428.3(BBS9):c.794A>G (p.Glu265Gly) rs1278607147
NM_198428.3(BBS9):c.801_803del (p.Phe269del) rs780367770
NM_198428.3(BBS9):c.866G>A (p.Cys289Tyr)
NM_198428.3(BBS9):c.898A>T (p.Thr300Ser)
NM_198428.3(BBS9):c.955A>G (p.Thr319Ala)
NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer) rs2535217440
Single allele

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