ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 9

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 243
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.1330-62C>T rs9785054 0.99266
NM_198428.3(BBS9):c.1329+1606C>T rs6974593 0.97489
NM_198428.3(BBS9):c.*110C>T rs1050721 0.45573
NM_198428.3(BBS9):c.*103T>C rs1050719 0.40841
NM_198428.3(BBS9):c.1275+13G>T rs11981364 0.26909
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_198428.3(BBS9):c.-407C>G rs3750123 0.15979
NM_198428.3(BBS9):c.263+39A>G rs17169881 0.15964
NM_198428.3(BBS9):c.-12+7T>C rs1468797 0.15207
NM_198428.3(BBS9):c.-259G>A rs73095326 0.10731
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 0.02858
NM_198428.3(BBS9):c.*549A>G rs73690947 0.01710
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_198428.3(BBS9):c.*138A>C rs59454255 0.01586
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440 0.01355
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904 0.01256
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.2220G>A (p.Leu740=) rs115809567 0.00765
NM_198428.3(BBS9):c.1694-6T>C rs28622379 0.00710
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_198428.3(BBS9):c.-305T>G rs112060099 0.00592
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.390T>C (p.Asn130=) rs78283245 0.00370
NM_198428.3(BBS9):c.*453C>G rs74748415 0.00361
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_198428.3(BBS9):c.*336A>G rs578208457 0.00135
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527 0.00088
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 0.00066
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.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_198428.3(BBS9):c.*29A>G rs373446119 0.00041
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891 0.00037
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066 0.00034
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.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.886+14T>G rs368019366 0.00019
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00016
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.1487C>T (p.Thr496Ile) rs139303948 0.00011
NM_198428.3(BBS9):c.2022G>T (p.Arg674=) rs561957887 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.2509A>G (p.Met837Val) rs771310981 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.2313G>A (p.Thr771=) rs374269883 0.00008
NM_198428.3(BBS9):c.2033G>A (p.Arg678His) rs200654248 0.00007
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.-447A>C rs886062278 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.*337C>T rs1188169231 0.00004
NM_198428.3(BBS9):c.*406A>G rs748029581 0.00004
NM_198428.3(BBS9):c.-206T>G rs953412791 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.1276-17C>T rs199758277 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.1611A>C (p.Pro537=) rs140411078 0.00004
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe) rs779871496 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.702+6G>A rs777329822 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.1236C>T (p.Asn412=) rs139235142 0.00003
NM_198428.3(BBS9):c.1377C>T (p.Val459=) rs763552337 0.00003
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555 0.00003
NM_198428.3(BBS9):c.1553-11T>C rs756802547 0.00003
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162 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.2174C>T (p.Thr725Ile) rs749948775 0.00003
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu) rs757754301 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.528T>A (p.Pro176=) rs757308943 0.00003
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile) rs1443035026 0.00002
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr) rs537110423 0.00002
NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys) rs775703296 0.00002
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr) rs778505224 0.00002
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00002
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal) rs752782918 0.00002
NM_198428.3(BBS9):c.2633-15T>C rs757904510 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.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.1033A>G (p.Ile345Val) rs1426530664 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.1210A>G (p.Met404Val) rs779666112 0.00001
NM_198428.3(BBS9):c.122T>G (p.Ile41Ser) rs1381039813 0.00001
NM_198428.3(BBS9):c.1329+5T>C rs200033003 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.1464T>C (p.Ser488=) rs200850911 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.1790-7C>T rs746901030 0.00001
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met) rs752845007 0.00001
NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys) rs543113169 0.00001
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu) rs771777721 0.00001
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys) rs746543061 0.00001
NM_198428.3(BBS9):c.2070C>G (p.Ala690=) rs200515072 0.00001
NM_198428.3(BBS9):c.214del (p.Val72fs) rs1384578916 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.2623C>T (p.Pro875Ser) rs755911247 0.00001
NM_198428.3(BBS9):c.263+1G>A rs137962929 0.00001
NM_198428.3(BBS9):c.272A>T (p.Glu91Val) rs886062283 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.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
NM_198428.3(BBS9):c.894A>C (p.Glu298Asp) rs757469936 0.00001
NM_198428.3(BBS9):c.938A>G (p.His313Arg) rs533714503 0.00001
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.1022T>A (p.Leu341Ter)
NM_198428.3(BBS9):c.104_112+4del rs869025208
NM_198428.3(BBS9):c.1052A>T (p.Asp351Val) rs1815378459
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.1130A>G (p.Asn377Ser) rs886062285
NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)
NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)
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.1275+1G>A
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser) rs762511626
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1432+2T>G
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) rs2128667543
NM_198428.3(BBS9):c.1535C>T (p.Thr512Ile) rs886062286
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter) rs1401715737
NM_198428.3(BBS9):c.1553-1G>A
NM_198428.3(BBS9):c.1694-2A>G
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1789+1G>C
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225
NM_198428.3(BBS9):c.1790-1091A>G
NM_198428.3(BBS9):c.1790-17T>C rs765367261
NM_198428.3(BBS9):c.1799G>A (p.Arg600His) rs749018243
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly) rs370925964
NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)
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.1923C>A (p.Pro641=) rs886062287
NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)
NM_198428.3(BBS9):c.195C>A (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)
NM_198428.3(BBS9):c.1963-1G>T
NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)
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.2044G>A (p.Ala682Thr) rs772347593
NM_198428.3(BBS9):c.2045dup (p.Arg683fs) rs587777810
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.2113C>T (p.Gln705Ter)
NM_198428.3(BBS9):c.2115+17dup rs1826376756
NM_198428.3(BBS9):c.2116-2A>T
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn) rs1393453305
NM_198428.3(BBS9):c.2299-2A>C
NM_198428.3(BBS9):c.2404C>T (p.Pro802Ser) rs886062288
NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)
NM_198428.3(BBS9):c.2521+951G>T
NM_198428.3(BBS9):c.2527T>C (p.Cys843Arg)
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.328G>A (p.Gly110Arg)
NM_198428.3(BBS9):c.360del (p.Gln120fs)
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)
NM_198428.3(BBS9):c.443-37371A>G
NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)
NM_198428.3(BBS9):c.529G>T (p.Gly177Cys) rs750278720
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.542C>G (p.Pro181Arg) rs779588488
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe) rs2128312652
NM_198428.3(BBS9):c.702+15dup rs756949696
NM_198428.3(BBS9):c.702+1G>A rs2128325966
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875
NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)
NM_198428.3(BBS9):c.794A>G (p.Glu265Gly)
NM_198428.3(BBS9):c.886+7A>G
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)

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