ClinVar Miner

List of variants in gene BBS1, ZDHHC24 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 591
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_024649.5(BBS1):c.*955G>A rs1791686 0.33323
NM_024649.5(BBS1):c.1180+116T>C rs3819247 0.24920
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_024649.5(BBS1):c.*840A>G rs3741360 0.23322
NM_024649.5(BBS1):c.1608+95C>T rs2305532 0.21152
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_024649.5(BBS1):c.*428G>C rs41302425 0.02701
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_024649.5(BBS1):c.*1215T>C rs115354748 0.01605
NM_024649.5(BBS1):c.*187C>T rs148117167 0.00609
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_024649.5(BBS1):c.724-16C>T rs141332689 0.00081
NM_024649.5(BBS1):c.*219A>G rs74451472 0.00057
NM_024649.5(BBS1):c.*1349T>C rs752758324 0.00035
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu) rs151203205 0.00031
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051 0.00028
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824 0.00023
NM_024649.5(BBS1):c.*522C>T rs886048528 0.00020
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101 0.00019
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu) rs141255069 0.00016
NM_024649.5(BBS1):c.*104G>C rs554182779 0.00014
NM_024649.5(BBS1):c.1474-8C>T rs398124402 0.00013
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg) rs199711874 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr) rs760237505 0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_024649.5(BBS1):c.756G>C (p.Glu252Asp) rs149920346 0.00010
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp) rs767395683 0.00009
NM_024649.5(BBS1):c.1059A>G (p.Gly353=) rs199692416 0.00009
NM_024649.5(BBS1):c.1110+15C>T rs371084544 0.00009
NM_024649.5(BBS1):c.1404G>A (p.Leu468=) rs140013934 0.00009
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00009
NM_024649.5(BBS1):c.1243G>A (p.Val415Met) rs150444177 0.00007
NM_024649.5(BBS1):c.*473C>T rs886048526 0.00006
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127 0.00006
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788 0.00006
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser) rs369653969 0.00006
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141 0.00006
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) rs142648652 0.00006
NM_024649.5(BBS1):c.738C>T (p.Ser246=) rs775266312 0.00006
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027 0.00006
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys) rs760381850 0.00006
NM_024649.5(BBS1):c.858C>T (p.Ile286=) rs746775716 0.00006
NM_024649.5(BBS1):c.951+7C>A rs780784789 0.00006
NM_024649.5(BBS1):c.1035C>T (p.Ala345=) rs779935398 0.00005
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) rs147783319 0.00005
NM_024649.5(BBS1):c.751C>G (p.Leu251Val) rs951217740 0.00005
NM_024649.5(BBS1):c.901G>A (p.Val301Ile) rs1037134217 0.00005
NM_024649.5(BBS1):c.1246G>T (p.Gly416Cys) rs202201758 0.00004
NM_024649.5(BBS1):c.1474-14C>T rs369972079 0.00004
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) rs746206916 0.00004
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560 0.00004
NM_024649.5(BBS1):c.745G>A (p.Val249Ile) rs139145556 0.00004
NM_024649.5(BBS1):c.750C>T (p.Phe250=) rs750108791 0.00004
NM_024649.5(BBS1):c.830+12C>T rs781283997 0.00004
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn) rs780169168 0.00004
NM_024649.5(BBS1):c.908T>C (p.Val303Ala) rs750668484 0.00004
NM_024649.5(BBS1):c.*1217C>A rs1057306658 0.00003
NM_024649.5(BBS1):c.1067G>A (p.Arg356His) rs771291825 0.00003
NM_024649.5(BBS1):c.1111-13C>T rs768620927 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=) rs781014949 0.00003
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) rs373894194 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060 0.00003
NM_024649.5(BBS1):c.*259C>A rs1040142241 0.00002
NM_024649.5(BBS1):c.*950C>T rs1344507018 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.1139G>A (p.Arg380Gln) rs758139447 0.00002
NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn) rs775513593 0.00002
NM_024649.5(BBS1):c.1295G>A (p.Arg432Gln) rs138491266 0.00002
NM_024649.5(BBS1):c.1346A>T (p.His449Leu) rs777746992 0.00002
NM_024649.5(BBS1):c.1380C>A (p.Arg460=) rs1167767003 0.00002
NM_024649.5(BBS1):c.1474-19C>T rs755940643 0.00002
NM_024649.5(BBS1):c.1474G>T (p.Val492Phe) rs747604822 0.00002
NM_024649.5(BBS1):c.1533C>G (p.Thr511=) rs112953332 0.00002
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200 0.00002
NM_024649.5(BBS1):c.1608+7G>A rs776545195 0.00002
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys) rs184614863 0.00002
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr) rs768098877 0.00002
NM_024649.5(BBS1):c.1695+9C>T rs756514477 0.00002
NM_024649.5(BBS1):c.724-15G>A rs376386231 0.00002
NM_024649.5(BBS1):c.725T>C (p.Met242Thr) rs771506842 0.00002
NM_024649.5(BBS1):c.808G>A (p.Gly270Arg) rs754465006 0.00002
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545 0.00002
NM_024649.5(BBS1):c.939C>T (p.Gly313=) rs755023569 0.00002
NM_024649.5(BBS1):c.*1088G>A rs886048531 0.00001
NM_024649.5(BBS1):c.*10T>A rs765633556 0.00001
NM_024649.5(BBS1):c.*1274A>G rs192684991 0.00001
NM_024649.5(BBS1):c.1006C>T (p.Leu336=) rs765494351 0.00001
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp) rs747656068 0.00001
NM_024649.5(BBS1):c.1066C>T (p.Arg356Cys) rs747459381 0.00001
NM_024649.5(BBS1):c.1111-12G>A rs774638549 0.00001
NM_024649.5(BBS1):c.1111-2A>G rs761969357 0.00001
NM_024649.5(BBS1):c.1116A>G (p.Ala372=) rs1335578252 0.00001
NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser) rs759275651 0.00001
NM_024649.5(BBS1):c.1143C>T (p.Tyr381=) rs1021331909 0.00001
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg) rs377297999 0.00001
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp) rs143495423 0.00001
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210 0.00001
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) rs772235333 0.00001
NM_024649.5(BBS1):c.1181-14G>C rs747049051 0.00001
NM_024649.5(BBS1):c.1181-6C>T rs368445790 0.00001
NM_024649.5(BBS1):c.1197C>T (p.Ile399=) rs774005906 0.00001
NM_024649.5(BBS1):c.1253C>T (p.Pro418Leu) rs1410252393 0.00001
NM_024649.5(BBS1):c.1266C>T (p.Ala422=) rs775519437 0.00001
NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp) rs767247916 0.00001
NM_024649.5(BBS1):c.1302C>T (p.Tyr434=) rs1417786271 0.00001
NM_024649.5(BBS1):c.1303G>A (p.Val435Met) rs1181760871 0.00001
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu) rs374356964 0.00001
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) rs1014835928 0.00001
NM_024649.5(BBS1):c.1320A>G (p.Arg440=) rs1430151544 0.00001
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala) rs765829383 0.00001
NM_024649.5(BBS1):c.1339+16G>A rs1347358462 0.00001
NM_024649.5(BBS1):c.1341C>T (p.Ala447=) rs934613283 0.00001
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) rs557739576 0.00001
NM_024649.5(BBS1):c.1392C>T (p.Ala464=) rs1178616571 0.00001
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) rs756550025 0.00001
NM_024649.5(BBS1):c.1396G>A (p.Ala466Thr) rs1271245314 0.00001
NM_024649.5(BBS1):c.1437C>T (p.Ser479=) rs1856697260 0.00001
NM_024649.5(BBS1):c.1440G>A (p.Thr480=) rs751466006 0.00001
NM_024649.5(BBS1):c.1442C>T (p.Thr481Ile) rs757132669 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln) rs779828966 0.00001
NM_024649.5(BBS1):c.1467C>T (p.His489=) rs749008475 0.00001
NM_024649.5(BBS1):c.1470C>T (p.Ala490=) rs772427832 0.00001
NM_024649.5(BBS1):c.1471G>A (p.Val491Met) rs377469172 0.00001
NM_024649.5(BBS1):c.1473+4A>G rs1486200900 0.00001
NM_024649.5(BBS1):c.1487G>A (p.Gly496Asp) rs1306126953 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala) rs1856753561 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.1554G>T (p.Leu518=) rs760568652 0.00001
NM_024649.5(BBS1):c.1572C>T (p.Asn524=) rs757866253 0.00001
NM_024649.5(BBS1):c.1578G>A (p.Ala526=) rs373397428 0.00001
NM_024649.5(BBS1):c.1615T>C (p.Leu539=) rs1727051374 0.00001
NM_024649.5(BBS1):c.1626A>G (p.Pro542=) rs780444865 0.00001
NM_024649.5(BBS1):c.1640C>A (p.Pro547His) rs774636593 0.00001
NM_024649.5(BBS1):c.1671C>T (p.Asn557=) rs1179878578 0.00001
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp) rs544767888 0.00001
NM_024649.5(BBS1):c.1687A>G (p.Ile563Val) rs374048871 0.00001
NM_024649.5(BBS1):c.1696-9C>T rs1363840770 0.00001
NM_024649.5(BBS1):c.1714G>A (p.Gly572Ser) rs758544060 0.00001
NM_024649.5(BBS1):c.1743C>T (p.His581=) rs61890368 0.00001
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) rs761304709 0.00001
NM_024649.5(BBS1):c.1776C>T (p.Ala592=) rs1489468740 0.00001
NM_024649.5(BBS1):c.739G>A (p.Val247Ile) rs763004810 0.00001
NM_024649.5(BBS1):c.742C>A (p.Pro248Thr) rs544315396 0.00001
NM_024649.5(BBS1):c.771T>C (p.Phe257=) rs367686869 0.00001
NM_024649.5(BBS1):c.772G>C (p.Asp258His) rs779297419 0.00001
NM_024649.5(BBS1):c.792C>T (p.Ala264=) rs770901594 0.00001
NM_024649.5(BBS1):c.795G>A (p.Ala265=) rs550508776 0.00001
NM_024649.5(BBS1):c.798C>G (p.Ala266=) rs1408073931 0.00001
NM_024649.5(BBS1):c.803G>A (p.Arg268His) rs375949076 0.00001
NM_024649.5(BBS1):c.818A>G (p.Tyr273Cys) rs765732035 0.00001
NM_024649.5(BBS1):c.830+2T>C rs1856209722 0.00001
NM_024649.5(BBS1):c.830+3A>G rs747229201 0.00001
NM_024649.5(BBS1):c.830G>A (p.Arg277Lys) rs1856209517 0.00001
NM_024649.5(BBS1):c.849G>A (p.Lys283=) rs1208056864 0.00001
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830 0.00001
NM_024649.5(BBS1):c.867C>T (p.Ser289=) rs776322401 0.00001
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln) rs372092113 0.00001
NM_024649.5(BBS1):c.931C>T (p.Leu311=) rs1256532742 0.00001
NM_024649.5(BBS1):c.948C>T (p.His316=) rs777721856 0.00001
NM_024649.5(BBS1):c.951+10C>T rs745672331 0.00001
NM_024649.5(BBS1):c.952-19G>A rs200350565 0.00001
NM_024649.5(BBS1):c.952-1G>A rs1057516661 0.00001
NM_024649.5(BBS1):c.952-20C>T rs1189838889 0.00001
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
NC_000011.9:g.(?_66296758)_(66307295_?)del
NM_001348571.2(ZDHHC24):c.560-4178_*21+248del
NM_024649.5(BBS1):c.*13_*21dup rs750165500
NM_024649.5(BBS1):c.*474G>A rs146244814
NM_024649.5(BBS1):c.*514C>T rs886048527
NM_024649.5(BBS1):c.*51C>G rs757289650
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.*776G>A rs1856839016
NM_024649.5(BBS1):c.*855G>A rs886048530
NM_024649.5(BBS1):c.*886C>T rs754365737
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val) rs765494351
NM_024649.5(BBS1):c.1008G>A (p.Leu336=)
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter) rs1856358703
NM_024649.5(BBS1):c.1009del (p.Glu337fs)
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) rs869025205
NM_024649.5(BBS1):c.1014G>A (p.Gln338=)
NM_024649.5(BBS1):c.1016A>T (p.His339Leu) rs1389335279
NM_024649.5(BBS1):c.1017T>C (p.His339=)
NM_024649.5(BBS1):c.1020_1021delinsGT (p.Arg341Trp)
NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)
NM_024649.5(BBS1):c.1025dup (p.Leu343fs) rs2134797289
NM_024649.5(BBS1):c.1026C>T (p.Gly342=) rs2134797305
NM_024649.5(BBS1):c.1033G>T (p.Ala345Ser)
NM_024649.5(BBS1):c.1035_1038del (p.Val346fs)
NM_024649.5(BBS1):c.1038C>A (p.Val346=)
NM_024649.5(BBS1):c.1047G>A (p.Gly349=)
NM_024649.5(BBS1):c.1050G>A (p.Leu350=)
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly) rs1555048530
NM_024649.5(BBS1):c.1062G>A (p.Glu354=) rs773617456
NM_024649.5(BBS1):c.1071T>C (p.Ile357=) rs1856362378
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) rs1057516533
NM_024649.5(BBS1):c.1075C>T (p.Arg359Cys)
NM_024649.5(BBS1):c.1076G>A (p.Arg359His)
NM_024649.5(BBS1):c.1076G>C (p.Arg359Pro)
NM_024649.5(BBS1):c.1076G>T (p.Arg359Leu) rs147766972
NM_024649.5(BBS1):c.1086C>T (p.Ala362=)
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn) rs1565286202
NM_024649.5(BBS1):c.1106C>T (p.Thr369Ile)
NM_024649.5(BBS1):c.1107C>G (p.Thr369=)
NM_024649.5(BBS1):c.1107C>T (p.Thr369=) rs2134797905
NM_024649.5(BBS1):c.1108C>T (p.Pro370Ser) rs2134797927
NM_024649.5(BBS1):c.1110+10A>G
NM_024649.5(BBS1):c.1110+12C>A
NM_024649.5(BBS1):c.1110+13_1110+14del
NM_024649.5(BBS1):c.1110+14C>G
NM_024649.5(BBS1):c.1110+16G>A
NM_024649.5(BBS1):c.1110+19A>T
NM_024649.5(BBS1):c.1110+1G>C rs2134797993
NM_024649.5(BBS1):c.1110+20T>A rs1590767738
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.1110+9C>T
NM_024649.5(BBS1):c.1111-10C>T rs1856477734
NM_024649.5(BBS1):c.1111-17_1111-16del
NM_024649.5(BBS1):c.1111-18T>G
NM_024649.5(BBS1):c.1111-4A>G
NM_024649.5(BBS1):c.1111-5C>A
NM_024649.5(BBS1):c.1111-6A>G
NM_024649.5(BBS1):c.1111-6A>T
NM_024649.5(BBS1):c.1111-8C>T rs2134809182
NM_024649.5(BBS1):c.1112A>G (p.Asp371Gly)
NM_024649.5(BBS1):c.1113T>C (p.Asp371=)
NM_024649.5(BBS1):c.1119dup (p.Thr374fs)
NM_024649.5(BBS1):c.1122C>G (p.Thr374=)
NM_024649.5(BBS1):c.1122C>T (p.Thr374=)
NM_024649.5(BBS1):c.1125C>A (p.Ser375Arg)
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1125C>T (p.Ser375=)
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1134T>C (p.Phe378=) rs2134809483
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1139G>T (p.Arg380Leu)
NM_024649.5(BBS1):c.1140G>T (p.Arg380=) rs959671412
NM_024649.5(BBS1):c.1141T>C (p.Tyr381His)
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter) rs1021331909
NM_024649.5(BBS1):c.1149G>A (p.Arg383=)
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu) rs1856480450
NM_024649.5(BBS1):c.1162C>G (p.Leu388Val)
NM_024649.5(BBS1):c.1164CAT[1] (p.Ile389del) rs1401696592
NM_024649.5(BBS1):c.1168A>G (p.Met390Val)
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly) rs1160669210
NM_024649.5(BBS1):c.1180+17C>T
NM_024649.5(BBS1):c.1180+1G>T
NM_024649.5(BBS1):c.1180+20G>C
NM_024649.5(BBS1):c.1180+5G>A rs886048525
NM_024649.5(BBS1):c.1181-10A>G
NM_024649.5(BBS1):c.1181-17A>G
NM_024649.5(BBS1):c.1181-1G>C
NM_024649.5(BBS1):c.1181-3T>G rs1856511506
NM_024649.5(BBS1):c.1181-4C>A rs1856511238
NM_024649.5(BBS1):c.1181-9C>G rs769820955
NM_024649.5(BBS1):c.1181_1191del
NM_024649.5(BBS1):c.1184G>T (p.Gly395Val) rs2134812092
NM_024649.5(BBS1):c.1188C>T (p.Gly396=)
NM_024649.5(BBS1):c.1189C>T (p.Leu397=) rs1856512452
NM_024649.5(BBS1):c.1193T>C (p.Ile398Thr)
NM_024649.5(BBS1):c.1194C>T (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter) rs1421044140
NM_024649.5(BBS1):c.1200G>A (p.Lys400=) rs761389294
NM_024649.5(BBS1):c.1203C>T (p.Ile401=) rs2134812233
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro) rs767150997
NM_024649.5(BBS1):c.1210C>A (p.Arg404Ser) rs2134812288
NM_024649.5(BBS1):c.1211G>A (p.Arg404His)
NM_024649.5(BBS1):c.1212T>A (p.Arg404=)
NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)
NM_024649.5(BBS1):c.1214_1215insSVA
NM_024649.5(BBS1):c.1215A>G (p.Thr405=)
NM_024649.5(BBS1):c.1221G>A (p.Val407=)
NM_024649.5(BBS1):c.1224T>C (p.Phe408=)
NM_024649.5(BBS1):c.1225G>T (p.Val409Leu)
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs) rs1555049194
NM_024649.5(BBS1):c.1235del (p.Gly412fs) rs1856517666
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) rs1060503690
NM_024649.5(BBS1):c.1243del (p.Val415fs) rs1590772920
NM_024649.5(BBS1):c.1244T>G (p.Val415Gly)
NM_024649.5(BBS1):c.1245G>A (p.Val415=) rs1590772951
NM_024649.5(BBS1):c.1251C>T (p.Pro417=)
NM_024649.5(BBS1):c.1253del (p.Pro418fs)
NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter) rs1856520165
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr) rs1346584719
NM_024649.5(BBS1):c.1267A>G (p.Met423Val)
NM_024649.5(BBS1):c.1284C>G (p.Pro428=)
NM_024649.5(BBS1):c.1284C>T (p.Pro428=)
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1285dup (p.Arg429fs) rs1565287921
NM_024649.5(BBS1):c.1286G>A (p.Arg429Gln)
NM_024649.5(BBS1):c.1293C>T (p.Thr431=)
NM_024649.5(BBS1):c.1315C>T (p.Leu439=)
NM_024649.5(BBS1):c.1318C>A (p.Arg440=)
NM_024649.5(BBS1):c.1335C>T (p.Gly445=)
NM_024649.5(BBS1):c.1339+13C>G
NM_024649.5(BBS1):c.1339+15G>A
NM_024649.5(BBS1):c.1339+163G>A
NM_024649.5(BBS1):c.1339+16G>C
NM_024649.5(BBS1):c.1339+1G>A
NM_024649.5(BBS1):c.1339+20C>A
NM_024649.5(BBS1):c.1339+5G>A rs2134813058
NM_024649.5(BBS1):c.1339+7C>G
NM_024649.5(BBS1):c.1340-10T>G rs2134830571
NM_024649.5(BBS1):c.1340-13C>T
NM_024649.5(BBS1):c.1340-1G>T rs1555049893
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1340-5C>T
NM_024649.5(BBS1):c.1340-6C>T
NM_024649.5(BBS1):c.1341C>A (p.Ala447=)
NM_024649.5(BBS1):c.1348C>A (p.Arg450=) rs746824022
NM_024649.5(BBS1):c.1348C>T (p.Arg450Trp)
NM_024649.5(BBS1):c.1353C>T (p.Ala451=)
NM_024649.5(BBS1):c.1356C>T (p.Phe452=) rs2134830713
NM_024649.5(BBS1):c.1362A>G (p.Thr454=) rs1198392457
NM_024649.5(BBS1):c.1365C>T (p.Asp455=) rs2134830735
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys) rs745460551
NM_024649.5(BBS1):c.1379G>A (p.Arg460His)
NM_024649.5(BBS1):c.1383dup (p.Arg462fs)
NM_024649.5(BBS1):c.1384C>T (p.Arg462Cys)
NM_024649.5(BBS1):c.1385G>A (p.Arg462His)
NM_024649.5(BBS1):c.1385G>T (p.Arg462Leu)
NM_024649.5(BBS1):c.1385_1401dup (p.Leu468fs) rs1166459319
NM_024649.5(BBS1):c.1389_1405dup (p.Gln469fs)
NM_024649.5(BBS1):c.1392C>G (p.Ala464=)
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs) rs1555049933
NM_024649.5(BBS1):c.1401C>G (p.Tyr467Ter)
NM_024649.5(BBS1):c.1401C>T (p.Tyr467=)
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799
NM_024649.5(BBS1):c.1405del (p.Gln469fs)
NM_024649.5(BBS1):c.1410C>G (p.Ala470=) rs1856695729
NM_024649.5(BBS1):c.1413C>A (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1413C>G (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1419C>T (p.Ser473=)
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer) rs1057516901
NM_024649.5(BBS1):c.1424dup (p.Ser476fs) rs886039798
NM_024649.5(BBS1):c.1432dup (p.Leu478fs)
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1446C>A (p.Ala482=)
NM_024649.5(BBS1):c.1446C>T (p.Ala482=) rs553123090
NM_024649.5(BBS1):c.1450G>T (p.Glu484Ter)
NM_024649.5(BBS1):c.1452G>A (p.Glu484=)
NM_024649.5(BBS1):c.1455A>G (p.Pro485=) rs2134831283
NM_024649.5(BBS1):c.1464G>T (p.Leu488=) rs1239688580
NM_024649.5(BBS1):c.1468G>A (p.Ala490Thr)
NM_024649.5(BBS1):c.1473+16A>T rs573129342
NM_024649.5(BBS1):c.1473+16_1473+18dup rs748694674
NM_024649.5(BBS1):c.1473+20C>T
NM_024649.5(BBS1):c.1473+2T>C rs1856699646
NM_024649.5(BBS1):c.1473+3G>A
NM_024649.5(BBS1):c.1473+7del
NM_024649.5(BBS1):c.1473+9C>A
NM_024649.5(BBS1):c.1473G>A (p.Val491=) rs1856699471
NM_024649.5(BBS1):c.1474-10C>T
NM_024649.5(BBS1):c.1474-11C>T
NM_024649.5(BBS1):c.1474-16C>T
NM_024649.5(BBS1):c.1474-18C>T rs2134836485
NM_024649.5(BBS1):c.1474-1G>A rs2134836650
NM_024649.5(BBS1):c.1474-7T>C
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr) rs1194392195
NM_024649.5(BBS1):c.1491del (p.Thr498fs) rs2134836723
NM_024649.5(BBS1):c.1497T>C (p.Phe499=)
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter)
NM_024649.5(BBS1):c.1508_1509delinsAC (p.Leu503His) rs886044274
NM_024649.5(BBS1):c.1512C>T (p.His504=) rs1301583558
NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter) rs2134836882
NM_024649.5(BBS1):c.1524C>T (p.Thr508=) rs2134836921
NM_024649.5(BBS1):c.1532C>T (p.Thr511Ile)
NM_024649.5(BBS1):c.1533C>T (p.Thr511=) rs112953332
NM_024649.5(BBS1):c.1534C>T (p.Arg512Cys)
NM_024649.5(BBS1):c.1535G>T (p.Arg512Leu)
NM_024649.5(BBS1):c.1544T>A (p.Leu515Gln)
NM_024649.5(BBS1):c.1548G>A (p.Gly516=)
NM_024649.5(BBS1):c.1548G>C (p.Gly516=) rs763101401
NM_024649.5(BBS1):c.1549C>T (p.Leu517=)
NM_024649.5(BBS1):c.1551G>A (p.Leu517=) rs767601210
NM_024649.5(BBS1):c.1551G>C (p.Leu517=) rs767601210
NM_024649.5(BBS1):c.1554G>C (p.Leu518=) rs760568652
NM_024649.5(BBS1):c.1557C>A (p.Val519=) rs370356893
NM_024649.5(BBS1):c.1560C>T (p.Cys520=)
NM_024649.5(BBS1):c.1563C>T (p.Phe521=)
NM_024649.5(BBS1):c.1564del (p.Leu522fs) rs2134837160
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro) rs752247232
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1577C>T (p.Ala526Val)
NM_024649.5(BBS1):c.1578G>T (p.Ala526=) rs373397428
NM_024649.5(BBS1):c.1581C>G (p.Leu527=)
NM_024649.5(BBS1):c.1585dup (p.Ser529fs) rs1555050268
NM_024649.5(BBS1):c.1591C>A (p.Pro531Thr)
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu) rs142648652
NM_024649.5(BBS1):c.1596G>A (p.Arg532=) rs1299530387
NM_024649.5(BBS1):c.1600_1601delinsGC (p.Phe534Ala) rs2134837535
NM_024649.5(BBS1):c.1602C>T (p.Phe534=)
NM_024649.5(BBS1):c.1605C>T (p.Phe535=)
NM_024649.5(BBS1):c.1606A>T (p.Lys536Ter)
NM_024649.5(BBS1):c.1608+16C>T rs2134837630
NM_024649.5(BBS1):c.1608+1G>A rs1856758582
NM_024649.5(BBS1):c.1608+8A>G rs2134837603
NM_024649.5(BBS1):c.1608+8A>T
NM_024649.5(BBS1):c.1608+9T>C rs2134837615
NM_024649.5(BBS1):c.1609-10C>G
NM_024649.5(BBS1):c.1609-14G>T
NM_024649.5(BBS1):c.1609-2A>T rs1555050394
NM_024649.5(BBS1):c.1609-4T>A
NM_024649.5(BBS1):c.1609-7A>G
NM_024649.5(BBS1):c.1609-9C>T rs1181236498
NM_024649.5(BBS1):c.1614C>T (p.Pro538=)
NM_024649.5(BBS1):c.1614del (p.Leu539fs) rs1856785950
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu) rs778941006
NM_024649.5(BBS1):c.1631T>A (p.Leu544His) rs1555050401
NM_024649.5(BBS1):c.1632C>T (p.Leu544=)
NM_024649.5(BBS1):c.1638C>T (p.Tyr546=) rs1856787758
NM_024649.5(BBS1):c.1641C>A (p.Pro547=) rs770947454
NM_024649.5(BBS1):c.1641C>G (p.Pro547=) rs770947454
NM_024649.5(BBS1):c.1641C>T (p.Pro547=)
NM_024649.5(BBS1):c.1642del (p.Leu548fs) rs1555050404
NM_024649.5(BBS1):c.1643T>C (p.Leu548Pro) rs2134840970
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) rs773632109
NM_024649.5(BBS1):c.1646del (p.Glu549fs)
NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter) rs1856788934
NM_024649.5(BBS1):c.1660A>C (p.Ser554Arg)
NM_024649.5(BBS1):c.1668T>C (p.Ser556=)
NM_024649.5(BBS1):c.1673A>G (p.Lys558Arg) rs2134841179
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal) rs1555050422
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter) rs1856790811
NM_024649.5(BBS1):c.1683A>G (p.Ser561=) rs1856790888
NM_024649.5(BBS1):c.1692C>T (p.Ile564=) rs2134841325
NM_024649.5(BBS1):c.1693A>G (p.Lys565Glu) rs1856791342
NM_024649.5(BBS1):c.1694A>C (p.Lys565Thr)
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg) rs1565291081
NM_024649.5(BBS1):c.1695+1G>A rs2134841394
NM_024649.5(BBS1):c.1695+4G>C
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.1696-10T>G
NM_024649.5(BBS1):c.1696-13C>T
NM_024649.5(BBS1):c.1696-14C>A
NM_024649.5(BBS1):c.1696-16G>A
NM_024649.5(BBS1):c.1696-1G>A rs1856802024
NM_024649.5(BBS1):c.1696-4A>G
NM_024649.5(BBS1):c.1696-5C>T rs2134842580
NM_024649.5(BBS1):c.1696-6C>T
NM_024649.5(BBS1):c.1696-7T>C
NM_024649.5(BBS1):c.1701G>C (p.Leu567=)
NM_024649.5(BBS1):c.1701G>T (p.Leu567=)
NM_024649.5(BBS1):c.1702G>A (p.Val568Met) rs754300140
NM_024649.5(BBS1):c.1708C>G (p.Arg570Gly) rs1434577015
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) rs1434577015
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln) rs1856803176
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) rs1450045618
NM_024649.5(BBS1):c.1721G>A (p.Ser574Asn)
NM_024649.5(BBS1):c.1728C>T (p.Pro576=) rs779302298
NM_024649.5(BBS1):c.1734G>A (p.Leu578=)
NM_024649.5(BBS1):c.1734G>C (p.Leu578=) rs2134842985
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg) rs1856804554
NM_024649.5(BBS1):c.1740C>T (p.Ala580=) rs2134843050
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile) rs769773058
NM_024649.5(BBS1):c.1753C>A (p.Pro585Thr)
NM_024649.5(BBS1):c.1755T>C (p.Pro585=)
NM_024649.5(BBS1):c.1758G>T (p.Gly586=)
NM_024649.5(BBS1):c.1761C>T (p.Ser587=)
NM_024649.5(BBS1):c.1764G>A (p.Glu588=) rs2134843313
NM_024649.5(BBS1):c.1777G>T (p.Ala593Ser)
NM_024649.5(BBS1):c.1779C>T (p.Ala593=) rs1262928353
NM_024649.5(BBS1):c.1781G>A (p.Ter594=) rs1475796233
NM_024649.5(BBS1):c.724-13T>G
NM_024649.5(BBS1):c.724-15G>T
NM_024649.5(BBS1):c.724-17G>T
NM_024649.5(BBS1):c.724-17dup
NM_024649.5(BBS1):c.724-18T>A
NM_024649.5(BBS1):c.724-18T>C
NM_024649.5(BBS1):c.724-20T>G
NM_024649.5(BBS1):c.724-4G>A
NM_024649.5(BBS1):c.724-5T>A rs2134784385
NM_024649.5(BBS1):c.724-8_724-6del
NM_024649.5(BBS1):c.724-8_726del rs1856202628
NM_024649.5(BBS1):c.724-9T>C rs1590762249
NM_024649.5(BBS1):c.729C>A (p.Ser243Arg) rs1180861221
NM_024649.5(BBS1):c.729C>T (p.Ser243=)
NM_024649.5(BBS1):c.731T>C (p.Leu244Pro) rs2134784436
NM_024649.5(BBS1):c.734_735del (p.Pro245fs)
NM_024649.5(BBS1):c.739G>C (p.Val247Leu)
NM_024649.5(BBS1):c.747_748del (p.Phe250fs)
NM_024649.5(BBS1):c.751C>T (p.Leu251=)
NM_024649.5(BBS1):c.752del (p.Leu251fs) rs2134784600
NM_024649.5(BBS1):c.767del (p.Gln256fs) rs1590762360
NM_024649.5(BBS1):c.768G>C (p.Gln256His)
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu) rs367686869
NM_024649.5(BBS1):c.777T>C (p.Val259=) rs2134784755
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_024649.5(BBS1):c.780G>A (p.Glu260=)
NM_024649.5(BBS1):c.783C>T (p.Phe261=)
NM_024649.5(BBS1):c.785G>A (p.Arg262Gln)
NM_024649.5(BBS1):c.786del (p.Ala264fs) rs1057516330
NM_024649.5(BBS1):c.788_797dup (p.Asn269fs)
NM_024649.5(BBS1):c.793G>A (p.Ala265Thr)
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.794C>T (p.Ala265Val)
NM_024649.5(BBS1):c.796_805dup (p.Asn269fs)
NM_024649.5(BBS1):c.816C>T (p.Ile272=) rs1856208944
NM_024649.5(BBS1):c.830+10T>C
NM_024649.5(BBS1):c.830+10T>G rs2134785089
NM_024649.5(BBS1):c.830+12del rs1343720111
NM_024649.5(BBS1):c.830+13G>A
NM_024649.5(BBS1):c.830+16G>A
NM_024649.5(BBS1):c.830+1G>T
NM_024649.5(BBS1):c.830+20C>G
NM_024649.5(BBS1):c.830+2T>A
NM_024649.5(BBS1):c.830+350_1110+217del
NM_024649.5(BBS1):c.830+72A>G rs2134785377
NM_024649.5(BBS1):c.830+9A>G
NM_024649.5(BBS1):c.830+9A>T rs2134785082
NM_024649.5(BBS1):c.831-13_831-11del
NM_024649.5(BBS1):c.831-15T>G rs1293446597
NM_024649.5(BBS1):c.831-18G>A
NM_024649.5(BBS1):c.831-18G>C
NM_024649.5(BBS1):c.831-19T>C
NM_024649.5(BBS1):c.831-20G>A rs1856334164
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.831-3C>T
NM_024649.5(BBS1):c.831-4A>G rs2134794642
NM_024649.5(BBS1):c.837C>T (p.Ser279=) rs2134794684
NM_024649.5(BBS1):c.843C>T (p.His281=)
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) rs1057516427
NM_024649.5(BBS1):c.855dup (p.Ile286fs)
NM_024649.5(BBS1):c.863T>G (p.Leu288Arg)
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.873G>A (p.Gln291=) rs547524683
NM_024649.5(BBS1):c.886A>G (p.Ile296Val)
NM_024649.5(BBS1):c.887del (p.Ile296fs) rs794727006
NM_024649.5(BBS1):c.888C>T (p.Ile296=)
NM_024649.5(BBS1):c.889C>T (p.Arg297Trp)
NM_024649.5(BBS1):c.903C>T (p.Val301=) rs2134795241
NM_024649.5(BBS1):c.904C>T (p.Leu302=)
NM_024649.5(BBS1):c.907G>C (p.Val303Leu) rs2134795278
NM_024649.5(BBS1):c.910G>T (p.Val304Leu) rs1228755309
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)
NM_024649.5(BBS1):c.921C>G (p.Thr307=) rs2134795441
NM_024649.5(BBS1):c.930C>T (p.Ser310=) rs901307899
NM_024649.5(BBS1):c.938G>A (p.Gly313Asp) rs1280115378
NM_024649.5(BBS1):c.942C>T (p.Phe314=)
NM_024649.5(BBS1):c.945C>A (p.Thr315=) rs2134795565
NM_024649.5(BBS1):c.951+11dup
NM_024649.5(BBS1):c.951+16AGC[2]
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024649.5(BBS1):c.951+1G>C
NM_024649.5(BBS1):c.951+1G>T rs746875134
NM_024649.5(BBS1):c.951+2T>A
NM_024649.5(BBS1):c.951+2T>G
NM_024649.5(BBS1):c.951+3G>A rs1590766778
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024649.5(BBS1):c.952-12G>A
NM_024649.5(BBS1):c.952-15G>A
NM_024649.5(BBS1):c.952-16G>A
NM_024649.5(BBS1):c.952-18C>T
NM_024649.5(BBS1):c.952-1G>C rs1057516661
NM_024649.5(BBS1):c.952-20C>A rs1189838889
NM_024649.5(BBS1):c.952-5G>A rs2134796694
NM_024649.5(BBS1):c.952-7C>G rs1590767187
NM_024649.5(BBS1):c.952-7C>T rs1590767187
NM_024649.5(BBS1):c.952-8C>G rs1856353251
NM_024649.5(BBS1):c.952-9C>T
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter) rs1856354695
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)
NM_024649.5(BBS1):c.971T>C (p.Val324Ala)
NM_024649.5(BBS1):c.981del (p.Ala328fs) rs1057516371
NM_024649.5(BBS1):c.982G>A (p.Ala328Thr)
NM_024649.5(BBS1):c.987C>T (p.Ala329=)
NM_024649.5(BBS1):c.996C>G (p.Thr332=)
NM_024649.5(BBS1):c.999G>A (p.Met333Ile) rs1856357942
NM_024649.5(BBS1):c.999G>T (p.Met333Ile) rs1856357942
NM_024649.5(BBS1):c.[1285C>T];[908del]

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