ClinVar Miner

List of variants in gene BBS9 reported as uncertain significance for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 286
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.2294A>G (p.Glu765Gly) rs140882212 0.00031
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala) rs143963391 0.00022
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385 0.00021
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.767C>T (p.Ser256Leu) rs149790873 0.00013
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala) rs138436479 0.00011
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile) rs139303948 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.436G>A (p.Val146Ile) rs372412756 0.00010
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00009
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) rs143016114 0.00008
NM_198428.3(BBS9):c.2033G>A (p.Arg678His) rs200654248 0.00007
NM_198428.3(BBS9):c.921T>G (p.Asn307Lys) rs769663141 0.00007
NM_198428.3(BBS9):c.138G>A (p.Met46Ile) rs145241295 0.00006
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln) rs754343745 0.00006
NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly) rs201876934 0.00005
NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn) rs781476538 0.00005
NM_198428.3(BBS9):c.663G>T (p.Glu221Asp) rs767766656 0.00005
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp) rs1312526837 0.00004
NM_198428.3(BBS9):c.1237G>A (p.Val413Ile) rs778518775 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.1889A>G (p.Lys630Arg) rs561404900 0.00004
NM_198428.3(BBS9):c.2215G>A (p.Ala739Thr) rs369881355 0.00004
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe) rs779871496 0.00004
NM_198428.3(BBS9):c.2550C>A (p.Asp850Glu) rs768072201 0.00004
NM_198428.3(BBS9):c.2605C>T (p.His869Tyr) rs938197989 0.00004
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095 0.00004
NM_198428.3(BBS9):c.2657C>T (p.Ser886Leu) rs779169794 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.809G>C (p.Cys270Ser) rs763742314 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.1801A>G (p.Ile601Val) rs377588119 0.00003
NM_198428.3(BBS9):c.2020C>T (p.Arg674Trp) rs368526968 0.00003
NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile) rs749948775 0.00003
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn) rs368704638 0.00003
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile) rs1443035026 0.00002
NM_198428.3(BBS9):c.145C>G (p.Leu49Val) rs777409972 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.2036G>A (p.Arg679Gln) rs768958916 0.00002
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu) rs760800602 0.00002
NM_198428.3(BBS9):c.205C>A (p.Leu69Ile) rs375757123 0.00002
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal) rs752782918 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.433G>A (p.Gly145Ser) rs144340890 0.00002
NM_198428.3(BBS9):c.565C>T (p.Arg189Cys) rs776941068 0.00002
NM_198428.3(BBS9):c.566G>A (p.Arg189His) rs547643751 0.00002
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly) rs1264926096 0.00002
NM_198428.3(BBS9):c.1033A>G (p.Ile345Val) rs1426530664 0.00001
NM_198428.3(BBS9):c.1048G>C (p.Asp350His) rs1450271969 0.00001
NM_198428.3(BBS9):c.1111G>A (p.Val371Ile) rs1366355966 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.1258A>G (p.Asn420Asp) rs1436119227 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.1361A>G (p.Lys454Arg) rs370631861 0.00001
NM_198428.3(BBS9):c.1481G>A (p.Ser494Asn) rs775868685 0.00001
NM_198428.3(BBS9):c.1511C>T (p.Ala504Val) rs750504833 0.00001
NM_198428.3(BBS9):c.1538-7T>G rs375661214 0.00001
NM_198428.3(BBS9):c.1558C>T (p.Pro520Ser) rs149730302 0.00001
NM_198428.3(BBS9):c.155T>G (p.Phe52Cys) rs756750359 0.00001
NM_198428.3(BBS9):c.1574G>A (p.Cys525Tyr) rs746119144 0.00001
NM_198428.3(BBS9):c.1642A>G (p.Ile548Val) rs1050416352 0.00001
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala) rs1310602174 0.00001
NM_198428.3(BBS9):c.1699G>A (p.Ala567Thr) rs200439561 0.00001
NM_198428.3(BBS9):c.1819G>A (p.Glu607Lys) rs771575427 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.1856G>A (p.Arg619His) rs750412402 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.1918_1920dup (p.Ile640dup) rs761174142 0.00001
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys) rs746543061 0.00001
NM_198428.3(BBS9):c.2072C>T (p.Pro691Leu) rs759571062 0.00001
NM_198428.3(BBS9):c.2088C>A (p.Asp696Glu) rs752548438 0.00001
NM_198428.3(BBS9):c.2099A>G (p.Asp700Gly) rs763790518 0.00001
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu) rs1402083567 0.00001
NM_198428.3(BBS9):c.2373G>T (p.Gln791His) rs758968522 0.00001
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser) rs774701632 0.00001
NM_198428.3(BBS9):c.2491G>A (p.Ala831Thr) rs1851012393 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.2621C>T (p.Thr874Ile) rs750363787 0.00001
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser) rs755911247 0.00001
NM_198428.3(BBS9):c.2636T>A (p.Val879Asp) rs976242629 0.00001
NM_198428.3(BBS9):c.263C>T (p.Ser88Leu) rs749974697 0.00001
NM_198428.3(BBS9):c.2654T>C (p.Val885Ala) rs1238854328 0.00001
NM_198428.3(BBS9):c.395A>G (p.Gln132Arg) rs542324847 0.00001
NM_198428.3(BBS9):c.397A>G (p.Arg133Gly) rs759120113 0.00001
NM_198428.3(BBS9):c.410A>G (p.Asn137Ser) rs752108930 0.00001
NM_198428.3(BBS9):c.469A>G (p.Met157Val) rs148763093 0.00001
NM_198428.3(BBS9):c.49A>G (p.Lys17Glu) rs1329996453 0.00001
NM_198428.3(BBS9):c.632C>T (p.Ala211Val) rs1225416201 0.00001
NM_198428.3(BBS9):c.665C>T (p.Thr222Ile) rs1317691865 0.00001
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198428.3(BBS9):c.839T>C (p.Met280Thr) rs143119193 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.979C>T (p.Pro327Ser) rs760272596 0.00001
NM_198428.3(BBS9):c.989C>T (p.Pro330Leu) rs370056161 0.00001
NC_000007.13:g.(?_33185845)_(33185996_?)dup
NC_000007.13:g.(?_33185865)_(33644838_?)dup
NC_000007.13:g.(?_33192313)_(33195314_?)dup
NC_000007.13:g.(?_33644457)_(33644838_?)dup
NC_000007.13:g.(?_33644477)_(33767915_?)dup
NC_000007.14:g.(?_33505463)_(33505645_?)del
NC_000007.14:g.(?_33505463)_(33605226_?)del
NM_198428.3(BBS9):c.*778_*780dup rs886062289
NM_198428.3(BBS9):c.-37dup rs886062282
NM_198428.3(BBS9):c.1014_1015delinsTT (p.Leu338_His339delinsPheTyr) rs2128347670
NM_198428.3(BBS9):c.1016+2dup
NM_198428.3(BBS9):c.101G>A (p.Gly34Glu)
NM_198428.3(BBS9):c.1046G>A (p.Ser349Asn)
NM_198428.3(BBS9):c.1103C>T (p.Ala368Val) rs1815389952
NM_198428.3(BBS9):c.114T>G (p.Asp38Glu)
NM_198428.3(BBS9):c.11T>A (p.Phe4Tyr) rs746345067
NM_198428.3(BBS9):c.11T>G (p.Phe4Cys) rs746345067
NM_198428.3(BBS9):c.1228G>T (p.Asp410Tyr) rs1000831388
NM_198428.3(BBS9):c.1245C>A (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1249G>C (p.Val417Leu) rs751604593
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe) rs751604593
NM_198428.3(BBS9):c.1275+6T>G rs1816408545
NM_198428.3(BBS9):c.1288G>A (p.Val430Ile)
NM_198428.3(BBS9):c.1330G>C (p.Val444Leu)
NM_198428.3(BBS9):c.1367A>G (p.Lys456Arg) rs2128661224
NM_198428.3(BBS9):c.136A>T (p.Met46Leu)
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser) rs762511626
NM_198428.3(BBS9):c.1426T>A (p.Phe476Ile)
NM_198428.3(BBS9):c.1453G>C (p.Val485Leu)
NM_198428.3(BBS9):c.1466T>C (p.Val489Ala)
NM_198428.3(BBS9):c.1531C>A (p.Pro511Thr)
NM_198428.3(BBS9):c.1532C>A (p.Pro511Gln) rs965817527
NM_198428.3(BBS9):c.1532C>G (p.Pro511Arg)
NM_198428.3(BBS9):c.1544A>T (p.Asn515Ile)
NM_198428.3(BBS9):c.1547C>T (p.Pro516Leu)
NM_198428.3(BBS9):c.1552+5G>T
NM_198428.3(BBS9):c.1562G>C (p.Arg521Pro) rs34218557
NM_198428.3(BBS9):c.1582A>G (p.Arg528Gly)
NM_198428.3(BBS9):c.1586T>A (p.Leu529His)
NM_198428.3(BBS9):c.1596G>C (p.Lys532Asn)
NM_198428.3(BBS9):c.160C>A (p.Pro54Thr)
NM_198428.3(BBS9):c.1610C>T (p.Pro537Leu)
NM_198428.3(BBS9):c.1637A>G (p.His546Arg)
NM_198428.3(BBS9):c.1646C>G (p.Thr549Ser)
NM_198428.3(BBS9):c.1670T>G (p.Val557Gly) rs1819942366
NM_198428.3(BBS9):c.1691C>T (p.Pro564Leu)
NM_198428.3(BBS9):c.1693+4del rs2128687729
NM_198428.3(BBS9):c.176C>A (p.Thr59Lys) rs749727731
NM_198428.3(BBS9):c.1775C>G (p.Ala592Gly)
NM_198428.3(BBS9):c.1786T>G (p.Ser596Ala)
NM_198428.3(BBS9):c.1789+5G>T rs2128714437
NM_198428.3(BBS9):c.1790-3C>T
NM_198428.3(BBS9):c.1793G>A (p.Arg598Gln)
NM_198428.3(BBS9):c.1799G>A (p.Arg600His) rs749018243
NM_198428.3(BBS9):c.1799G>T (p.Arg600Leu)
NM_198428.3(BBS9):c.1808G>C (p.Ser603Thr) rs1584588488
NM_198428.3(BBS9):c.1841A>G (p.Asn614Ser) rs1825501129
NM_198428.3(BBS9):c.1843G>A (p.Glu615Lys) rs993175361
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly) rs370925964
NM_198428.3(BBS9):c.1928A>G (p.Gln643Arg) rs1048014676
NM_198428.3(BBS9):c.1937T>C (p.Phe646Ser)
NM_198428.3(BBS9):c.1951C>G (p.His651Asp)
NM_198428.3(BBS9):c.1962+3A>T rs1017765966
NM_198428.3(BBS9):c.1963-6T>C rs769047017
NM_198428.3(BBS9):c.1966C>T (p.Arg656Trp)
NM_198428.3(BBS9):c.196G>A (p.Glu66Lys)
NM_198428.3(BBS9):c.1992A>C (p.Glu664Asp) rs2128756476
NM_198428.3(BBS9):c.19C>A (p.Arg7Ser)
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys) rs184994140
NM_198428.3(BBS9):c.2009C>T (p.Ala670Val)
NM_198428.3(BBS9):c.2021G>A (p.Arg674Gln)
NM_198428.3(BBS9):c.2027T>C (p.Ile676Thr)
NM_198428.3(BBS9):c.2035C>T (p.Arg679Trp) rs749841788
NM_198428.3(BBS9):c.206T>C (p.Leu69Pro) rs771129780
NM_198428.3(BBS9):c.2070_2071delinsTA (p.Pro691Thr)
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>C (p.Arg7Pro) rs746340993
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu) rs746340993
NM_198428.3(BBS9):c.2101G>A (p.Gly701Arg)
NM_198428.3(BBS9):c.2108A>G (p.Tyr703Cys)
NM_198428.3(BBS9):c.2120T>C (p.Ile707Thr)
NM_198428.3(BBS9):c.2134G>A (p.Ala712Thr)
NM_198428.3(BBS9):c.214G>A (p.Val72Met) rs765240871
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn) rs1393453305
NM_198428.3(BBS9):c.2245G>C (p.Val749Leu) rs1563271285
NM_198428.3(BBS9):c.2261C>T (p.Ala754Val)
NM_198428.3(BBS9):c.2298+5G>A rs1846053369
NM_198428.3(BBS9):c.2312C>T (p.Thr771Met)
NM_198428.3(BBS9):c.2357_2359del (p.Lys786del)
NM_198428.3(BBS9):c.2358G>C (p.Lys786Asn)
NM_198428.3(BBS9):c.2370G>T (p.Glu790Asp)
NM_198428.3(BBS9):c.2385_2396del (p.Ser797_Asn800del)
NM_198428.3(BBS9):c.2462A>C (p.Lys821Thr) rs1851006563
NM_198428.3(BBS9):c.2489A>G (p.Asp830Gly)
NM_198428.3(BBS9):c.2494G>C (p.Ala832Pro)
NM_198428.3(BBS9):c.2511G>T (p.Met837Ile)
NM_198428.3(BBS9):c.2518C>T (p.Pro840Ser)
NM_198428.3(BBS9):c.251G>A (p.Gly84Glu) rs766917697
NM_198428.3(BBS9):c.2522-3T>C
NM_198428.3(BBS9):c.2522-5A>G rs2129207620
NM_198428.3(BBS9):c.2534C>G (p.Thr845Arg) rs2129207675
NM_198428.3(BBS9):c.253A>C (p.Lys85Gln)
NM_198428.3(BBS9):c.2581A>T (p.Thr861Ser) rs1864358642
NM_198428.3(BBS9):c.2588T>A (p.Leu863Gln)
NM_198428.3(BBS9):c.2591T>G (p.Phe864Cys) rs1490049568
NM_198428.3(BBS9):c.2594C>T (p.Thr865Ile)
NM_198428.3(BBS9):c.259G>A (p.Val87Ile) rs1255605179
NM_198428.3(BBS9):c.2604A>C (p.Arg868Ser)
NM_198428.3(BBS9):c.2623C>A (p.Pro875Thr) rs755911247
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198428.3(BBS9):c.2631del (p.Glu878fs) rs1401159616
NM_198428.3(BBS9):c.2633-2A>G rs1864417554
NM_198428.3(BBS9):c.2633-3C>G rs1422030068
NM_198428.3(BBS9):c.2642C>G (p.Pro881Arg)
NM_198428.3(BBS9):c.2642C>T (p.Pro881Leu)
NM_198428.3(BBS9):c.2648A>G (p.Gln883Arg) rs967703053
NM_198428.3(BBS9):c.27G>C (p.Trp9Cys)
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG rs775674614
NM_198428.3(BBS9):c.341A>G (p.Asn114Ser) rs1797497751
NM_198428.3(BBS9):c.349C>T (p.His117Tyr)
NM_198428.3(BBS9):c.377T>C (p.Met126Thr) rs2128162902
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.412A>G (p.Met138Val)
NM_198428.3(BBS9):c.450T>A (p.Asp150Glu) rs2128312333
NM_198428.3(BBS9):c.455T>C (p.Ile152Thr)
NM_198428.3(BBS9):c.485T>C (p.Met162Thr) rs1797227483
NM_198428.3(BBS9):c.49_51del (p.Lys17del) rs1562672388
NM_198428.3(BBS9):c.509C>A (p.Ala170Asp)
NM_198428.3(BBS9):c.527C>G (p.Pro176Arg)
NM_198428.3(BBS9):c.529G>T (p.Gly177Cys) rs750278720
NM_198428.3(BBS9):c.544G>T (p.Gly182Cys) rs946999139
NM_198428.3(BBS9):c.548C>T (p.Pro183Leu)
NM_198428.3(BBS9):c.557A>G (p.Tyr186Cys)
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.60T>A (p.Phe20Leu)
NM_198428.3(BBS9):c.614A>T (p.Tyr205Phe)
NM_198428.3(BBS9):c.618-3C>G rs1460288162
NM_198428.3(BBS9):c.61G>C (p.Asp21His)
NM_198428.3(BBS9):c.625G>T (p.Val209Leu)
NM_198428.3(BBS9):c.628C>A (p.Leu210Ile)
NM_198428.3(BBS9):c.644A>T (p.Asp215Val)
NM_198428.3(BBS9):c.657G>T (p.Arg219Ser) rs1307359911
NM_198428.3(BBS9):c.660_674del (p.Glu221_Gln225del) rs1562901016
NM_198428.3(BBS9):c.677A>C (p.Lys226Thr) rs1562901214
NM_198428.3(BBS9):c.688G>A (p.Gly230Arg) rs1798450904
NM_198428.3(BBS9):c.692A>T (p.Lys231Ile)
NM_198428.3(BBS9):c.702T>A (p.Val234=) rs1373479665
NM_198428.3(BBS9):c.71G>A (p.Cys24Tyr) rs1792335317
NM_198428.3(BBS9):c.742A>C (p.Ile248Leu) rs577724923
NM_198428.3(BBS9):c.745T>C (p.Cys249Arg)
NM_198428.3(BBS9):c.746G>A (p.Cys249Tyr) rs772441123
NM_198428.3(BBS9):c.755C>T (p.Ser252Phe)
NM_198428.3(BBS9):c.767C>G (p.Ser256Trp) rs149790873
NM_198428.3(BBS9):c.778G>A (p.Val260Ile) rs149093988
NM_198428.3(BBS9):c.778G>T (p.Val260Phe) rs149093988
NM_198428.3(BBS9):c.802T>A (p.Phe268Ile) rs939805930
NM_198428.3(BBS9):c.831T>G (p.Ile277Met) rs1800123284
NM_198428.3(BBS9):c.83C>T (p.Ala28Val) rs1792337794
NM_198428.3(BBS9):c.850G>T (p.Asp284Tyr) rs1800127011
NM_198428.3(BBS9):c.858C>G (p.Ser286Arg)
NM_198428.3(BBS9):c.863G>C (p.Ser288Thr) rs2128345247
NM_198428.3(BBS9):c.886+4T>A rs542391272
NM_198428.3(BBS9):c.938A>C (p.His313Pro) rs533714503
NM_198428.3(BBS9):c.940A>G (p.Ile314Val)
NM_198428.3(BBS9):c.948A>G (p.Gln316=)
NM_198428.3(BBS9):c.962A>G (p.Lys321Arg)

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