ClinVar Miner

List of variants in gene BBS7 studied for Bardet-Biedl syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 622
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_176824.3(BBS7):c.1890+16G>A rs1507994 0.40768
NM_176824.3(BBS7):c.-133C>G rs2271176 0.31261
NM_176824.3(BBS7):c.*419T>A rs3762840 0.29292
NM_176824.3(BBS7):c.*690T>C rs3217753 0.26976
NM_176824.3(BBS7):c.*1286G>A rs1507996 0.21106
NM_176824.3(BBS7):c.*1202G>A rs3217756 0.00843
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418 0.00662
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913 0.00589
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_176824.3(BBS7):c.*250T>G rs80171619 0.00193
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398 0.00154
NM_176824.3(BBS7):c.*353G>A rs570995801 0.00100
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608 0.00060
NM_176824.3(BBS7):c.*1526C>T rs546122158 0.00041
NM_176824.3(BBS7):c.1890+9_1890+10del rs772355304 0.00041
NM_176824.3(BBS7):c.223A>G (p.Ile75Val) rs138872188 0.00039
NM_176824.3(BBS7):c.1230+18T>C rs750801316 0.00038
NM_176824.3(BBS7):c.165+16T>C rs371497491 0.00034
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu) rs146412602 0.00023
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe) rs200373010 0.00020
NM_176824.3(BBS7):c.*1324G>A rs181687808 0.00018
NM_176824.3(BBS7):c.*513C>T rs577071672 0.00016
NM_176824.3(BBS7):c.*709G>C rs886059050 0.00016
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193 0.00016
NM_176824.3(BBS7):c.123T>C (p.Asp41=) rs148011561 0.00013
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu) rs375084239 0.00011
NM_176824.3(BBS7):c.718+9T>C rs374523374 0.00011
NM_176824.3(BBS7):c.917T>C (p.Val306Ala) rs373378747 0.00011
NM_176824.3(BBS7):c.1511+19C>A rs201524145 0.00010
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_176824.3(BBS7):c.*724C>T rs1025886041 0.00009
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val) rs141224967 0.00009
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu) rs747055521 0.00009
NM_176824.3(BBS7):c.839G>A (p.Arg280Gln) rs749970544 0.00009
NM_176824.3(BBS7):c.*1139T>C rs542533305 0.00008
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109 0.00008
NM_176824.3(BBS7):c.2108A>G (p.Tyr703Cys) rs375825705 0.00008
NM_176824.3(BBS7):c.864C>T (p.Ser288=) rs142376157 0.00008
NM_176824.3(BBS7):c.*932T>G rs3217755 0.00007
NM_176824.3(BBS7):c.1142T>C (p.Ile381Thr) rs374288473 0.00006
NM_176824.3(BBS7):c.1231-16T>C rs781657811 0.00006
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00006
NM_176824.3(BBS7):c.1890+19G>A rs779382577 0.00006
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002 0.00006
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009 0.00006
NM_176824.3(BBS7):c.1036C>T (p.Arg346Trp) rs533535422 0.00005
NM_176824.3(BBS7):c.1511+9A>G rs192602290 0.00005
NM_176824.3(BBS7):c.654T>C (p.Leu218=) rs377333596 0.00005
NM_176824.3(BBS7):c.*605G>A rs886059051 0.00004
NM_176824.3(BBS7):c.1314C>T (p.Asp438=) rs774070535 0.00004
NM_176824.3(BBS7):c.1806C>G (p.Val602=) rs752970955 0.00004
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile) rs534408910 0.00004
NM_176824.3(BBS7):c.601+3A>G rs747555346 0.00004
NM_176824.3(BBS7):c.863G>A (p.Ser288Asn) rs750276510 0.00004
NM_176824.3(BBS7):c.865G>A (p.Val289Ile) rs200770952 0.00004
NM_176824.3(BBS7):c.974A>G (p.Glu325Gly) rs1255872676 0.00004
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln) rs370716101 0.00003
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782 0.00003
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp) rs768987725 0.00003
NM_176824.3(BBS7):c.1512-12A>G rs369411905 0.00003
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser) rs771957843 0.00003
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_176824.3(BBS7):c.1746A>G (p.Lys582=) rs1185659710 0.00003
NM_176824.3(BBS7):c.192G>A (p.Pro64=) rs775906320 0.00003
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775 0.00003
NM_176824.3(BBS7):c.719-16A>G rs1311400903 0.00003
NM_176824.3(BBS7):c.789C>T (p.Asp263=) rs140478463 0.00003
NM_176824.3(BBS7):c.908A>T (p.Asp303Val) rs1261951183 0.00003
NM_176824.3(BBS7):c.1191C>T (p.Ile397=) rs144483021 0.00002
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr) rs758567781 0.00002
NM_176824.3(BBS7):c.1305+13A>G rs773872987 0.00002
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln) rs372685495 0.00002
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys) rs747889031 0.00002
NM_176824.3(BBS7):c.1677-12T>C rs1169349356 0.00002
NM_176824.3(BBS7):c.1755A>G (p.Thr585=) rs1725022392 0.00002
NM_176824.3(BBS7):c.1869G>A (p.Val623=) rs769405089 0.00002
NM_176824.3(BBS7):c.2146T>C (p.Ter716Arg) rs200470633 0.00002
NM_176824.3(BBS7):c.37G>A (p.Val13Met) rs753027552 0.00002
NM_176824.3(BBS7):c.442A>C (p.Asn148His) rs982037757 0.00002
NM_176824.3(BBS7):c.478C>T (p.Arg160Cys) rs756538454 0.00002
NM_176824.3(BBS7):c.508A>G (p.Arg170Gly) rs199891330 0.00002
NM_176824.3(BBS7):c.532T>A (p.Ser178Thr) rs750684046 0.00002
NM_176824.3(BBS7):c.639C>T (p.Asp213=) rs150407489 0.00002
NM_176824.3(BBS7):c.718+12A>G rs774687060 0.00002
NM_176824.3(BBS7):c.*1361A>T rs544492413 0.00001
NM_176824.3(BBS7):c.*996T>C rs886059049 0.00001
NM_176824.3(BBS7):c.-137A>G rs1727529496 0.00001
NM_176824.3(BBS7):c.1011G>A (p.Glu337=) rs1726068187 0.00001
NM_176824.3(BBS7):c.103-15T>G rs368818439 0.00001
NM_176824.3(BBS7):c.1038-16A>G rs201278442 0.00001
NM_176824.3(BBS7):c.1053T>C (p.His351=) rs202187503 0.00001
NM_176824.3(BBS7):c.1056G>A (p.Leu352=) rs377163503 0.00001
NM_176824.3(BBS7):c.1069T>G (p.Leu357Val) rs906692940 0.00001
NM_176824.3(BBS7):c.1091A>C (p.Gln364Pro) rs746699644 0.00001
NM_176824.3(BBS7):c.1124C>T (p.Ala375Val) rs749603454 0.00001
NM_176824.3(BBS7):c.1139G>A (p.Gly380Asp) rs921736196 0.00001
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn) rs889491713 0.00001
NM_176824.3(BBS7):c.1190T>C (p.Ile397Thr) rs1725962975 0.00001
NM_176824.3(BBS7):c.1231-15T>A rs530819337 0.00001
NM_176824.3(BBS7):c.1305+12T>C rs376754689 0.00001
NM_176824.3(BBS7):c.1306-5C>T rs1475632900 0.00001
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys) rs776931328 0.00001
NM_176824.3(BBS7):c.1344G>C (p.Gln448His) rs1473005529 0.00001
NM_176824.3(BBS7):c.1371+14A>C rs1725624096 0.00001
NM_176824.3(BBS7):c.1421C>G (p.Pro474Arg) rs771018739 0.00001
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr) rs886059053 0.00001
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter) rs1470030897 0.00001
NM_176824.3(BBS7):c.1487G>A (p.Arg496Lys) rs750133083 0.00001
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr) rs200788672 0.00001
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly) rs746759579 0.00001
NM_176824.3(BBS7):c.1592T>C (p.Val531Ala) rs778439860 0.00001
NM_176824.3(BBS7):c.1676+10A>G rs767020583 0.00001
NM_176824.3(BBS7):c.1676+7C>G rs1247015446 0.00001
NM_176824.3(BBS7):c.1677-16del rs761923235 0.00001
NM_176824.3(BBS7):c.1691T>C (p.Val564Ala) rs1463083357 0.00001
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val) rs751029709 0.00001
NM_176824.3(BBS7):c.1721C>G (p.Ser574Cys) rs765782762 0.00001
NM_176824.3(BBS7):c.1725C>T (p.Ile575=) rs938747332 0.00001
NM_176824.3(BBS7):c.1729A>C (p.Lys577Gln) rs200953128 0.00001
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112 0.00001
NM_176824.3(BBS7):c.189G>T (p.Gly63=) rs541833400 0.00001
NM_176824.3(BBS7):c.1904A>T (p.His635Leu) rs1233960628 0.00001
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met) rs773771144 0.00001
NM_176824.3(BBS7):c.1917G>A (p.Thr639=) rs770239209 0.00001
NM_176824.3(BBS7):c.1960G>C (p.Asp654His) rs143632090 0.00001
NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys) rs1044486579 0.00001
NM_176824.3(BBS7):c.1989A>G (p.Gln663=) rs753795840 0.00001
NM_176824.3(BBS7):c.198T>G (p.Ile66Met) rs367765050 0.00001
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr) rs1342336710 0.00001
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys) rs1013002037 0.00001
NM_176824.3(BBS7):c.2017A>T (p.Met673Leu) rs1436556570 0.00001
NM_176824.3(BBS7):c.2082C>A (p.Pro694=) rs759152556 0.00001
NM_176824.3(BBS7):c.2136C>T (p.Phe712=) rs199782217 0.00001
NM_176824.3(BBS7):c.213G>A (p.Leu71=) rs778509860 0.00001
NM_176824.3(BBS7):c.257C>T (p.Ala86Val) rs1274597386 0.00001
NM_176824.3(BBS7):c.262T>G (p.Ser88Ala) rs1489244436 0.00001
NM_176824.3(BBS7):c.277T>G (p.Phe93Val) rs750813339 0.00001
NM_176824.3(BBS7):c.286A>C (p.Arg96=) rs754438760 0.00001
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn) rs775395171 0.00001
NM_176824.3(BBS7):c.479G>A (p.Arg160His) rs138270119 0.00001
NM_176824.3(BBS7):c.640G>A (p.Gly214Arg) rs1226167451 0.00001
NM_176824.3(BBS7):c.650C>T (p.Ala217Val) rs370510563 0.00001
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939 0.00001
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504 0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr) rs727503821 0.00001
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr) rs766450289 0.00001
NM_176824.3(BBS7):c.786T>A (p.Asp262Glu) rs1437278443 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_176824.3(BBS7):c.849+18G>T rs1423156185 0.00001
NM_176824.3(BBS7):c.849+1G>C rs763719688 0.00001
NM_176824.3(BBS7):c.849+6T>G rs759955004 0.00001
NM_176824.3(BBS7):c.852G>A (p.Met284Ile) rs771877302 0.00001
NM_176824.3(BBS7):c.876C>A (p.Ile292=) rs369319119 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_176824.3(BBS7):c.895A>G (p.Lys299Glu) rs1275186434 0.00001
NM_176824.3(BBS7):c.915C>T (p.Ile305=) rs776811172 0.00001
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile) rs1488474028 0.00001
NM_176824.3(BBS7):c.964A>G (p.Ile322Val) rs762359988 0.00001
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln) rs778714139 0.00001
NM_176824.3(BBS7):c.*1161A>G rs918127402
NM_176824.3(BBS7):c.*1209_*1211del rs886059048
NM_176824.3(BBS7):c.*273T>C rs190252263
NM_176824.3(BBS7):c.*304A>C rs886059052
NM_176824.3(BBS7):c.*729del rs3217754
NM_176824.3(BBS7):c.*828A>G rs879827169
NM_176824.3(BBS7):c.-98C>T rs546649349
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_176824.3(BBS7):c.1012A>T (p.Met338Leu) rs1726067918
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter) rs1726067442
NM_176824.3(BBS7):c.102+16T>A
NM_176824.3(BBS7):c.102+1G>T
NM_176824.3(BBS7):c.102+8A>T
NM_176824.3(BBS7):c.1024A>G (p.Ile342Val) rs1726067128
NM_176824.3(BBS7):c.103-10T>C
NM_176824.3(BBS7):c.103-268_112del
NM_176824.3(BBS7):c.103-4A>C rs374281147
NM_176824.3(BBS7):c.103-8T>C
NM_176824.3(BBS7):c.1037+19T>C
NM_176824.3(BBS7):c.1037+19T>G
NM_176824.3(BBS7):c.1037+20T>G
NM_176824.3(BBS7):c.1037+5C>T rs749266895
NM_176824.3(BBS7):c.1037+9_1037+14del
NM_176824.3(BBS7):c.1038-5T>G
NM_176824.3(BBS7):c.1038-7T>C
NM_176824.3(BBS7):c.1038G>A (p.Arg346=) rs989502021
NM_176824.3(BBS7):c.1042G>T (p.Glu348Ter)
NM_176824.3(BBS7):c.1047G>A (p.Leu349=)
NM_176824.3(BBS7):c.1052A>G (p.His351Arg)
NM_176824.3(BBS7):c.1052A>T (p.His351Leu) rs940315256
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
NM_176824.3(BBS7):c.1083G>A (p.Glu361=)
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs) rs577434138
NM_176824.3(BBS7):c.1087T>C (p.Tyr363His) rs2149068941
NM_176824.3(BBS7):c.1093_1094del (p.Gln365fs) rs2149068932
NM_176824.3(BBS7):c.1100C>T (p.Ser367Phe)
NM_176824.3(BBS7):c.1104A>G (p.Gln368=)
NM_176824.3(BBS7):c.110T>C (p.Ile37Thr)
NM_176824.3(BBS7):c.1116A>G (p.Ala372=) rs2149068875
NM_176824.3(BBS7):c.1119A>G (p.Lys373=)
NM_176824.3(BBS7):c.114A>C (p.Gly38=)
NM_176824.3(BBS7):c.1158A>C (p.Thr386=)
NM_176824.3(BBS7):c.1158A>T (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.115_116del (p.Asp39fs)
NM_176824.3(BBS7):c.1160T>C (p.Leu387Pro) rs2149068760
NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)
NM_176824.3(BBS7):c.1198G>A (p.Val400Ile)
NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)
NM_176824.3(BBS7):c.1207G>A (p.Ala403Thr) rs761858167
NM_176824.3(BBS7):c.1214A>G (p.Asp405Gly)
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs) rs1725961307
NM_176824.3(BBS7):c.1221C>A (p.Val407=)
NM_176824.3(BBS7):c.1221C>G (p.Val407=) rs760247807
NM_176824.3(BBS7):c.1231-11A>G
NM_176824.3(BBS7):c.1231-15del
NM_176824.3(BBS7):c.1231-15dup rs747444432
NM_176824.3(BBS7):c.1231-3T>C rs1725872645
NM_176824.3(BBS7):c.1231-4A>C
NM_176824.3(BBS7):c.1231-4A>G
NM_176824.3(BBS7):c.1231-4A>T
NM_176824.3(BBS7):c.1237G>A (p.Val413Ile) rs2149066894
NM_176824.3(BBS7):c.1243A>C (p.Ile415Leu) rs1299054607
NM_176824.3(BBS7):c.1250del (p.Leu417fs) rs2149066862
NM_176824.3(BBS7):c.1257T>C (p.Asp419=)
NM_176824.3(BBS7):c.1263T>C (p.Asp421=)
NM_176824.3(BBS7):c.127G>A (p.Val43Ile)
NM_176824.3(BBS7):c.1284C>T (p.Ser428=)
NM_176824.3(BBS7):c.1287T>C (p.Phe429=)
NM_176824.3(BBS7):c.1289G>A (p.Ser430Asn) rs1410107664
NM_176824.3(BBS7):c.1302T>C (p.Ser434=)
NM_176824.3(BBS7):c.1305+15A>G
NM_176824.3(BBS7):c.1305+17_1305+21del rs2149066719
NM_176824.3(BBS7):c.1305+19G>T
NM_176824.3(BBS7):c.1305+1G>A
NM_176824.3(BBS7):c.1305+2T>A
NM_176824.3(BBS7):c.1305+7A>G
NM_176824.3(BBS7):c.1306-13G>A
NM_176824.3(BBS7):c.1306-18A>G
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.1306-4C>A
NM_176824.3(BBS7):c.1312G>A (p.Asp438Asn)
NM_176824.3(BBS7):c.1327G>A (p.Ala443Thr)
NM_176824.3(BBS7):c.1334A>C (p.Tyr445Ser)
NM_176824.3(BBS7):c.1334A>T (p.Tyr445Phe) rs776931328
NM_176824.3(BBS7):c.133dup (p.Met45fs)
NM_176824.3(BBS7):c.1340G>A (p.Cys447Tyr) rs2149061880
NM_176824.3(BBS7):c.1340G>T (p.Cys447Phe) rs2149061880
NM_176824.3(BBS7):c.1356A>G (p.Thr452=)
NM_176824.3(BBS7):c.1360C>T (p.Leu454=)
NM_176824.3(BBS7):c.136T>G (p.Cys46Gly)
NM_176824.3(BBS7):c.1371+11T>G
NM_176824.3(BBS7):c.1371+13G>T
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1371+8T>A rs2149061801
NM_176824.3(BBS7):c.1372-10G>A
NM_176824.3(BBS7):c.1372-11T>C
NM_176824.3(BBS7):c.1372-12G>A
NM_176824.3(BBS7):c.1372-13dup
NM_176824.3(BBS7):c.1372-19C>G rs1725398365
NM_176824.3(BBS7):c.1372-20C>T
NM_176824.3(BBS7):c.1375C>A (p.Arg459Ser) rs150743868
NM_176824.3(BBS7):c.1378del (p.Ser460fs)
NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu)
NM_176824.3(BBS7):c.1389C>A (p.Gly463=)
NM_176824.3(BBS7):c.1402C>T (p.Leu468=)
NM_176824.3(BBS7):c.1404A>G (p.Leu468=)
NM_176824.3(BBS7):c.1410A>G (p.Ala470=) rs1725394181
NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) rs991365297
NM_176824.3(BBS7):c.1425A>G (p.Arg475=)
NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
NM_176824.3(BBS7):c.1451G>A (p.Arg484His) rs200720761
NM_176824.3(BBS7):c.1451G>C (p.Arg484Pro) rs200720761
NM_176824.3(BBS7):c.1453C>T (p.Gln485Ter)
NM_176824.3(BBS7):c.1457A>G (p.Tyr486Cys) rs2149056521
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1459C>A (p.His487Asn) rs1725389767
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs) rs1725388372
NM_176824.3(BBS7):c.1473T>A (p.Leu491=) rs757900989
NM_176824.3(BBS7):c.1485A>G (p.Gln495=)
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly) rs1560643809
NM_176824.3(BBS7):c.1488A>G (p.Arg496=)
NM_176824.3(BBS7):c.1489del (p.Thr497fs)
NM_176824.3(BBS7):c.148A>G (p.Lys50Glu) rs1727082207
NM_176824.3(BBS7):c.1491T>G (p.Thr497=)
NM_176824.3(BBS7):c.1497dup (p.Ile500fs)
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
NM_176824.3(BBS7):c.1504C>T (p.His502Tyr) rs2149056423
NM_176824.3(BBS7):c.1510A>T (p.Arg504Ter) rs1725385758
NM_176824.3(BBS7):c.1511+16G>A
NM_176824.3(BBS7):c.1511+18G>A
NM_176824.3(BBS7):c.1512-14C>A rs759936975
NM_176824.3(BBS7):c.1512-18T>C
NM_176824.3(BBS7):c.1512-1G>A rs2149054421
NM_176824.3(BBS7):c.1512-20C>T
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser) rs763160690
NM_176824.3(BBS7):c.1515C>T (p.Pro505=)
NM_176824.3(BBS7):c.1522A>G (p.Thr508Ala)
NM_176824.3(BBS7):c.153A>G (p.Lys51=)
NM_176824.3(BBS7):c.1545C>T (p.Phe515=)
NM_176824.3(BBS7):c.1551del (p.Phe517fs)
NM_176824.3(BBS7):c.1554T>G (p.Ala518=)
NM_176824.3(BBS7):c.1558G>A (p.Val520Ile) rs1211533033
NM_176824.3(BBS7):c.1563C>T (p.His521=) rs2149054316
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
NM_176824.3(BBS7):c.1590A>G (p.Glu530=)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.1604C>T (p.Pro535Leu) rs1725285743
NM_176824.3(BBS7):c.1605T>G (p.Pro535=)
NM_176824.3(BBS7):c.1607C>T (p.Pro536Leu)
NM_176824.3(BBS7):c.1611A>C (p.Ala537=)
NM_176824.3(BBS7):c.1611A>G (p.Ala537=)
NM_176824.3(BBS7):c.1641C>G (p.Asn547Lys)
NM_176824.3(BBS7):c.165+20G>A
NM_176824.3(BBS7):c.165+20G>T
NM_176824.3(BBS7):c.165+5G>C rs760257318
NM_176824.3(BBS7):c.1657C>T (p.Gln553Ter) rs1394015094
NM_176824.3(BBS7):c.1659del (p.Gln553fs)
NM_176824.3(BBS7):c.166-15A>C
NM_176824.3(BBS7):c.166-18C>G
NM_176824.3(BBS7):c.166-20_166-19del
NM_176824.3(BBS7):c.166-2A>G
NM_176824.3(BBS7):c.166-4del
NM_176824.3(BBS7):c.166-4dup
NM_176824.3(BBS7):c.1663G>T (p.Glu555Ter) rs2149054103
NM_176824.3(BBS7):c.1668_1669delinsAT (p.Ser556_Thr557delinsArgSer)
NM_176824.3(BBS7):c.166G>T (p.Ala56Ser) rs1407094427
NM_176824.3(BBS7):c.1671C>A (p.Thr557=)
NM_176824.3(BBS7):c.1676+13T>C
NM_176824.3(BBS7):c.1677-11T>G
NM_176824.3(BBS7):c.1677-14T>C
NM_176824.3(BBS7):c.1677-17del
NM_176824.3(BBS7):c.1677-2A>G
NM_176824.3(BBS7):c.1677-490_1804del rs1578522416
NM_176824.3(BBS7):c.1685_1686del (p.Glu562fs)
NM_176824.3(BBS7):c.1685del (p.Glu562fs)
NM_176824.3(BBS7):c.1698A>G (p.Lys566=)
NM_176824.3(BBS7):c.1712C>T (p.Ser571Phe) rs1295543172
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_176824.3(BBS7):c.1728A>G (p.Leu576=)
NM_176824.3(BBS7):c.173dup (p.Lys59fs)
NM_176824.3(BBS7):c.174C>T (p.Phe58=)
NM_176824.3(BBS7):c.1764A>G (p.Lys588=)
NM_176824.3(BBS7):c.1785C>T (p.Tyr595=)
NM_176824.3(BBS7):c.1786+10_1786+13del
NM_176824.3(BBS7):c.1786+14A>G
NM_176824.3(BBS7):c.1786+1G>T rs1560638613
NM_176824.3(BBS7):c.1786+20_1786+22del
NM_176824.3(BBS7):c.1786+2T>C
NM_176824.3(BBS7):c.1786+8A>T
NM_176824.3(BBS7):c.1787-11A>C rs779593410
NM_176824.3(BBS7):c.1787-11A>G
NM_176824.3(BBS7):c.1787-14T>C
NM_176824.3(BBS7):c.1787-16G>T
NM_176824.3(BBS7):c.1787-19del
NM_176824.3(BBS7):c.1788G>T (p.Glu596Asp)
NM_176824.3(BBS7):c.1803A>T (p.Ser601=)
NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)
NM_176824.3(BBS7):c.1812C>T (p.His604=)
NM_176824.3(BBS7):c.1818A>G (p.Leu606=)
NM_176824.3(BBS7):c.1822C>T (p.Leu608=)
NM_176824.3(BBS7):c.1825A>G (p.Ile609Val)
NM_176824.3(BBS7):c.1830C>T (p.His610=)
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
NM_176824.3(BBS7):c.1849T>C (p.Leu617=)
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe) rs1725011147
NM_176824.3(BBS7):c.186C>G (p.Pro62=)
NM_176824.3(BBS7):c.1881T>C (p.Asp627=)
NM_176824.3(BBS7):c.1890+15C>T rs761350391
NM_176824.3(BBS7):c.1890+15_1890+16delinsTA rs2149048318
NM_176824.3(BBS7):c.1890+16G>C
NM_176824.3(BBS7):c.1890+17T>C
NM_176824.3(BBS7):c.1890+18C>T
NM_176824.3(BBS7):c.1890+19G>T
NM_176824.3(BBS7):c.1890+2dup
NM_176824.3(BBS7):c.1890+6T>C rs1553930514
NM_176824.3(BBS7):c.1890+8C>T
NM_176824.3(BBS7):c.1890+9A>G
NM_176824.3(BBS7):c.1891-16T>G
NM_176824.3(BBS7):c.1891-1G>A rs2149048173
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1897C>T (p.Gln633Ter)
NM_176824.3(BBS7):c.1908G>A (p.Glu636=)
NM_176824.3(BBS7):c.1923T>A (p.Phe641Leu)
NM_176824.3(BBS7):c.1940A>G (p.His647Arg)
NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)
NM_176824.3(BBS7):c.1948C>T (p.Leu650=)
NM_176824.3(BBS7):c.1953A>G (p.Glu651=)
NM_176824.3(BBS7):c.1965C>T (p.His655=)
NM_176824.3(BBS7):c.1966C>T (p.Leu656=)
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.1968A>G (p.Leu656=)
NM_176824.3(BBS7):c.1970A>G (p.Gln657Arg) rs1724997637
NM_176824.3(BBS7):c.1975G>C (p.Glu659Gln)
NM_176824.3(BBS7):c.1978T>C (p.Tyr660His)
NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys) rs757308523
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) rs863224529
NM_176824.3(BBS7):c.1992T>C (p.Pro664=) rs1724995426
NM_176824.3(BBS7):c.1995A>C (p.Ala665=)
NM_176824.3(BBS7):c.2007A>T (p.Arg669Ser)
NM_176824.3(BBS7):c.2010C>T (p.Leu670=)
NM_176824.3(BBS7):c.2014+9A>G
NM_176824.3(BBS7):c.2015-17A>T rs1226821091
NM_176824.3(BBS7):c.2015-6T>C
NM_176824.3(BBS7):c.2015G>T (p.Gly672Val)
NM_176824.3(BBS7):c.2016C>T (p.Gly672=)
NM_176824.3(BBS7):c.2034C>T (p.Phe678=) rs2149045756
NM_176824.3(BBS7):c.2035A>G (p.Ile679Val)
NM_176824.3(BBS7):c.2042A>C (p.Lys681Thr)
NM_176824.3(BBS7):c.2046T>C (p.Phe682=) rs753884144
NM_176824.3(BBS7):c.2046T>G (p.Phe682Leu)
NM_176824.3(BBS7):c.2057G>A (p.Gly686Asp)
NM_176824.3(BBS7):c.2062A>T (p.Asn688Tyr) rs2149045701
NM_176824.3(BBS7):c.2067A>G (p.Val689=)
NM_176824.3(BBS7):c.2073T>C (p.Thr691=) rs2149045672
NM_176824.3(BBS7):c.2074A>G (p.Lys692Glu) rs1724883700
NM_176824.3(BBS7):c.2083C>A (p.Leu695Ile)
NM_176824.3(BBS7):c.2105G>T (p.Ser702Ile)
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg) rs1229720963
NM_176824.3(BBS7):c.2133C>T (p.Phe711=)
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)
NM_176824.3(BBS7):c.213G>C (p.Leu71=)
NM_176824.3(BBS7):c.2142A>G (p.Ala714=) rs2149045575
NM_176824.3(BBS7):c.214G>A (p.Gly72Arg)
NM_176824.3(BBS7):c.219G>A (p.Gly73=)
NM_176824.3(BBS7):c.237G>A (p.Gln79=)
NM_176824.3(BBS7):c.249T>C (p.Phe83=)
NM_176824.3(BBS7):c.258A>G (p.Ala86=)
NM_176824.3(BBS7):c.268A>G (p.Ile90Val)
NM_176824.3(BBS7):c.270T>G (p.Ile90Met)
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly) rs1050167281
NM_176824.3(BBS7):c.282A>G (p.Thr94=)
NM_176824.3(BBS7):c.282A>T (p.Thr94=)
NM_176824.3(BBS7):c.288_289del (p.Gly97fs)
NM_176824.3(BBS7):c.291A>G (p.Gly97=)
NM_176824.3(BBS7):c.293_294del (p.Lys98fs)
NM_176824.3(BBS7):c.294A>G (p.Lys98=) rs2149087496
NM_176824.3(BBS7):c.300C>T (p.Phe100=) rs750255237
NM_176824.3(BBS7):c.301C>G (p.Leu101Val) rs2149087474
NM_176824.3(BBS7):c.302T>A (p.Leu101His) rs760863058
NM_176824.3(BBS7):c.303C>T (p.Leu101=)
NM_176824.3(BBS7):c.306C>A (p.Ser102=)
NM_176824.3(BBS7):c.326A>G (p.Glu109Gly) rs2149087444
NM_176824.3(BBS7):c.328del (p.Ser110fs)
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe) rs1726975256
NM_176824.3(BBS7):c.337G>T (p.Ala113Ser) rs2149087425
NM_176824.3(BBS7):c.339T>G (p.Ala113=)
NM_176824.3(BBS7):c.340A>C (p.Met114Leu) rs142305911
NM_176824.3(BBS7):c.340A>G (p.Met114Val) rs142305911
NM_176824.3(BBS7):c.341+10T>C
NM_176824.3(BBS7):c.341+12G>A
NM_176824.3(BBS7):c.341+17C>G
NM_176824.3(BBS7):c.341+20T>A
NM_176824.3(BBS7):c.341+20_341+21del rs755362565
NM_176824.3(BBS7):c.341+2T>C
NM_176824.3(BBS7):c.341+8T>C rs2149087412
NM_176824.3(BBS7):c.342-11A>G
NM_176824.3(BBS7):c.342-16A>T
NM_176824.3(BBS7):c.342-19A>G
NM_176824.3(BBS7):c.342-3C>G rs1244071022
NM_176824.3(BBS7):c.346A>G (p.Ile116Val) rs2149085075
NM_176824.3(BBS7):c.362T>A (p.Leu121His) rs2149085046
NM_176824.3(BBS7):c.37-14G>A rs1727381941
NM_176824.3(BBS7):c.37-19A>C
NM_176824.3(BBS7):c.37-20C>T
NM_176824.3(BBS7):c.37-5T>C
NM_176824.3(BBS7):c.379T>G (p.Tyr127Asp) rs2149085024
NM_176824.3(BBS7):c.381C>T (p.Tyr127=)
NM_176824.3(BBS7):c.386dup (p.Tyr129Ter)
NM_176824.3(BBS7):c.389A>C (p.Asn130Thr) rs2149085001
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.391C>T (p.His131Tyr)
NM_176824.3(BBS7):c.398G>A (p.Cys133Tyr) rs769735978
NM_176824.3(BBS7):c.399dup (p.Asp134Ter)
NM_176824.3(BBS7):c.405C>T (p.Cys135=)
NM_176824.3(BBS7):c.417T>C (p.His139=)
NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)
NM_176824.3(BBS7):c.423C>A (p.Tyr141Ter)
NM_176824.3(BBS7):c.436A>G (p.Lys146Glu)
NM_176824.3(BBS7):c.443A>G (p.Asn148Ser) rs2149084908
NM_176824.3(BBS7):c.446A>C (p.Asp149Ala)
NM_176824.3(BBS7):c.454T>C (p.Cys152Arg) rs863224814
NM_176824.3(BBS7):c.483C>A (p.Ile161=)
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser) rs370690441
NM_176824.3(BBS7):c.488del (p.Pro163fs) rs2149084861
NM_176824.3(BBS7):c.48A>C (p.Thr16=)
NM_176824.3(BBS7):c.497C>T (p.Ala166Val) rs1341540567
NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr)
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer) rs1578564877
NM_176824.3(BBS7):c.502C>T (p.Gln168Ter)
NM_176824.3(BBS7):c.505G>C (p.Asp169His)
NM_176824.3(BBS7):c.511G>C (p.Val171Leu)
NM_176824.3(BBS7):c.517dup (p.Arg173fs)
NM_176824.3(BBS7):c.526C>T (p.Gln176Ter) rs2149084783
NM_176824.3(BBS7):c.528+11T>A
NM_176824.3(BBS7):c.528+11T>C
NM_176824.3(BBS7):c.529-15dup
NM_176824.3(BBS7):c.529-1dup rs1726566546
NM_176824.3(BBS7):c.529-7C>T
NM_176824.3(BBS7):c.529-7_529-5del rs758828904
NM_176824.3(BBS7):c.529-9C>G
NM_176824.3(BBS7):c.535G>A (p.Asp179Asn) rs2149080347
NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) rs1553933472
NM_176824.3(BBS7):c.543G>A (p.Met181Ile)
NM_176824.3(BBS7):c.546T>C (p.Tyr182=)
NM_176824.3(BBS7):c.54G>A (p.Gln18=) rs754868012
NM_176824.3(BBS7):c.552T>C (p.Val184=)
NM_176824.3(BBS7):c.564A>G (p.Gly188=)
NM_176824.3(BBS7):c.567C>T (p.Pro189=) rs567185907
NM_176824.3(BBS7):c.569dup (p.Thr191fs)
NM_176824.3(BBS7):c.574G>C (p.Val192Leu)
NM_176824.3(BBS7):c.578T>C (p.Leu193Ser) rs1726562977
NM_176824.3(BBS7):c.579A>G (p.Leu193=)
NM_176824.3(BBS7):c.580_582del (p.Ala194del)
NM_176824.3(BBS7):c.584T>C (p.Leu195Pro)
NM_176824.3(BBS7):c.585dup (p.His196fs)
NM_176824.3(BBS7):c.586C>T (p.His196Tyr)
NM_176824.3(BBS7):c.587A>G (p.His196Arg) rs886059054
NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)
NM_176824.3(BBS7):c.600C>A (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.600C>T (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.601+15A>G
NM_176824.3(BBS7):c.602-18G>A
NM_176824.3(BBS7):c.602-4G>T
NM_176824.3(BBS7):c.602-8A>G
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
NM_176824.3(BBS7):c.618C>T (p.Asp206=)
NM_176824.3(BBS7):c.627T>C (p.Phe209=) rs2149079198
NM_176824.3(BBS7):c.632C>G (p.Thr211Arg) rs119466002
NM_176824.3(BBS7):c.633A>G (p.Thr211=)
NM_176824.3(BBS7):c.635C>T (p.Ser212Leu)
NM_176824.3(BBS7):c.640G>C (p.Gly214Arg)
NM_176824.3(BBS7):c.649dup (p.Ala217fs) rs886044668
NM_176824.3(BBS7):c.655A>G (p.Ile219Val) rs2149079121
NM_176824.3(BBS7):c.666T>C (p.Thr222=)
NM_176824.3(BBS7):c.682C>T (p.Arg228Cys) rs762367354
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg) rs1727380420
NM_176824.3(BBS7):c.68_77del (p.Leu23fs)
NM_176824.3(BBS7):c.690G>A (p.Trp230Ter)
NM_176824.3(BBS7):c.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.711G>T (p.Lys237Asn)
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.718+12A>C
NM_176824.3(BBS7):c.718+16A>T rs368687702
NM_176824.3(BBS7):c.718+1G>C
NM_176824.3(BBS7):c.718+20C>G
NM_176824.3(BBS7):c.718+3A>T
NM_176824.3(BBS7):c.718G>A (p.Gly240Ser)
NM_176824.3(BBS7):c.719-20T>A
NM_176824.3(BBS7):c.719-20T>C
NM_176824.3(BBS7):c.719-2A>G
NM_176824.3(BBS7):c.719G>T (p.Gly240Val)
NM_176824.3(BBS7):c.725dup (p.Leu242fs)
NM_176824.3(BBS7):c.726G>A (p.Leu242=) rs2149077327
NM_176824.3(BBS7):c.72del (p.Pro25fs)
NM_176824.3(BBS7):c.737G>A (p.Ser246Asn) rs1444684339
NM_176824.3(BBS7):c.746T>A (p.Ile249Asn)
NM_176824.3(BBS7):c.746T>G (p.Ile249Ser)
NM_176824.3(BBS7):c.747T>C (p.Ile249=)
NM_176824.3(BBS7):c.748G>C (p.Val250Leu)
NM_176824.3(BBS7):c.748G>T (p.Val250Leu) rs759886973
NM_176824.3(BBS7):c.756T>C (p.Asp252=)
NM_176824.3(BBS7):c.758G>A (p.Gly253Glu)
NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) rs1560658189
NM_176824.3(BBS7):c.785A>G (p.Asp262Gly) rs1726405384
NM_176824.3(BBS7):c.785_786del (p.Asp262fs)
NM_176824.3(BBS7):c.78C>G (p.Ala26=)
NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)
NM_176824.3(BBS7):c.794T>C (p.Met265Thr) rs1726404404
NM_176824.3(BBS7):c.804G>A (p.Val268=)
NM_176824.3(BBS7):c.81A>G (p.Ser27=)
NM_176824.3(BBS7):c.821C>G (p.Ala274Gly)
NM_176824.3(BBS7):c.821C>T (p.Ala274Val) rs754878470
NM_176824.3(BBS7):c.82A>G (p.Arg28Gly) rs2149094179
NM_176824.3(BBS7):c.835C>T (p.Leu279=)
NM_176824.3(BBS7):c.842T>A (p.Phe281Tyr)
NM_176824.3(BBS7):c.847C>G (p.Gln283Glu)
NM_176824.3(BBS7):c.849+12A>G
NM_176824.3(BBS7):c.849+12A>T
NM_176824.3(BBS7):c.849+17A>G
NM_176824.3(BBS7):c.849+17del
NM_176824.3(BBS7):c.849+17dup
NM_176824.3(BBS7):c.849+1G>A
NM_176824.3(BBS7):c.849+9A>G
NM_176824.3(BBS7):c.849+9A>T
NM_176824.3(BBS7):c.850-10A>G
NM_176824.3(BBS7):c.850-20T>C
NM_176824.3(BBS7):c.850-8T>G
NM_176824.3(BBS7):c.867C>A (p.Val289=)
NM_176824.3(BBS7):c.867C>G (p.Val289=)
NM_176824.3(BBS7):c.87C>T (p.His29=)
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.880G>A (p.Gly294Ser)
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg) rs1726157542
NM_176824.3(BBS7):c.886T>C (p.Cys296Arg) rs2149072518
NM_176824.3(BBS7):c.894A>G (p.Gly298=)
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg) rs1726155956
NM_176824.3(BBS7):c.90_91del (p.Arg30fs)
NM_176824.3(BBS7):c.927A>C (p.Thr309=) rs771825770
NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)
NM_176824.3(BBS7):c.934+10A>C
NM_176824.3(BBS7):c.934+10A>G
NM_176824.3(BBS7):c.934+11T>C rs1461872585
NM_176824.3(BBS7):c.934+17T>C rs1165897878
NM_176824.3(BBS7):c.935-18T>G
NM_176824.3(BBS7):c.935-4A>G
NM_176824.3(BBS7):c.935-8C>G
NM_176824.3(BBS7):c.935G>C (p.Gly312Ala)
NM_176824.3(BBS7):c.945A>C (p.Thr315=)
NM_176824.3(BBS7):c.945A>G (p.Thr315=)
NM_176824.3(BBS7):c.947G>T (p.Gly316Val)
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_176824.3(BBS7):c.94A>G (p.Thr32Ala)
NM_176824.3(BBS7):c.96A>T (p.Thr32=)
NM_176824.3(BBS7):c.976A>G (p.Ser326Gly) rs863224815
NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)
NM_176824.3(BBS7):c.987A>G (p.Gly329=)

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