ClinVar Miner

List of variants in gene BBS10 reported as uncertain significance for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 250
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_024685.3(BBS10):c.-71C>T rs569445445 0.00293
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527 0.00040
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser) rs142140276 0.00018
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys) rs142297424 0.00011
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser) rs767717128 0.00009
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653 0.00008
NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu) rs56867176 0.00006
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg) rs1021050605 0.00004
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp) rs144402299 0.00004
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024685.4(BBS10):c.1882A>G (p.Met628Val) rs760505134 0.00004
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala) rs766733372 0.00004
NM_024685.4(BBS10):c.*177T>G rs189856910 0.00003
NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu) rs767572725 0.00003
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp) rs774809155 0.00003
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803 0.00003
NM_024685.4(BBS10):c.1970C>T (p.Thr657Ile) rs773540960 0.00003
NM_024685.4(BBS10):c.198-3C>T rs779659204 0.00003
NM_024685.4(BBS10):c.1A>G (p.Met1Val) rs752145803 0.00003
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr) rs1160564103 0.00003
NM_024685.4(BBS10):c.1034T>C (p.Ile345Thr) rs761897354 0.00002
NM_024685.4(BBS10):c.1232A>G (p.Glu411Gly) rs760904517 0.00002
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser) rs770239827 0.00002
NM_024685.4(BBS10):c.1607A>G (p.Tyr536Cys) rs765785183 0.00002
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr) rs373626588 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_024685.4(BBS10):c.1936A>G (p.Lys646Glu) rs757995171 0.00002
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro) rs759387000 0.00002
NM_024685.3(BBS10):c.-66C>T rs886049854 0.00001
NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu) rs938066133 0.00001
NM_024685.4(BBS10):c.1123A>T (p.Ile375Phe) rs1289641509 0.00001
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103 0.00001
NM_024685.4(BBS10):c.1198T>C (p.Cys400Arg) rs1951762407 0.00001
NM_024685.4(BBS10):c.1211A>G (p.His404Arg) rs964776134 0.00001
NM_024685.4(BBS10):c.1234G>C (p.Asp412His) rs1413288461 0.00001
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val) rs1460652135 0.00001
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly) rs933207351 0.00001
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn) rs750994616 0.00001
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly) rs1951758303 0.00001
NM_024685.4(BBS10):c.1628A>G (p.Asn543Ser) rs1444034224 0.00001
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys) rs758489303 0.00001
NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser) rs1453771610 0.00001
NM_024685.4(BBS10):c.190A>G (p.Ile64Val) rs755814743 0.00001
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val) rs748647079 0.00001
NM_024685.4(BBS10):c.196A>G (p.Arg66Gly) rs780874811 0.00001
NM_024685.4(BBS10):c.197+5C>T rs754503828 0.00001
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys) rs778614911 0.00001
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp) rs756069503 0.00001
NM_024685.4(BBS10):c.206T>A (p.Val69Glu) rs1176176320 0.00001
NM_024685.4(BBS10):c.2132C>T (p.Pro711Leu) rs202134724 0.00001
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter) rs959224608 0.00001
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe) rs767638924 0.00001
NM_024685.4(BBS10):c.235A>G (p.Thr79Ala) rs899733320 0.00001
NM_024685.4(BBS10):c.292C>A (p.His98Asn) rs748465517 0.00001
NM_024685.4(BBS10):c.327G>A (p.Met109Ile) rs1051916652 0.00001
NM_024685.4(BBS10):c.337A>G (p.Ile113Val) rs969686018 0.00001
NM_024685.4(BBS10):c.343A>G (p.Thr115Ala) rs147432159 0.00001
NM_024685.4(BBS10):c.344C>T (p.Thr115Ile) rs1254886838 0.00001
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg) rs936655028 0.00001
NM_024685.4(BBS10):c.389C>T (p.Ser130Phe) rs766572403 0.00001
NM_024685.4(BBS10):c.397C>G (p.Leu133Val) rs750446869 0.00001
NM_024685.4(BBS10):c.411G>T (p.Gln137His) rs775342373 0.00001
NM_024685.4(BBS10):c.434T>C (p.Met145Thr) rs144312522 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.653T>A (p.Phe218Tyr) rs1316090880 0.00001
NM_024685.4(BBS10):c.691T>C (p.Ser231Pro) rs777951931 0.00001
NM_024685.4(BBS10):c.763A>G (p.Met255Val) rs772739860 0.00001
NM_024685.4(BBS10):c.7A>C (p.Ser3Arg) rs1396450993 0.00001
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly) rs759385121 0.00001
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu) rs1000990130 0.00001
NC_000012.11:g.(?_76739593)_(76742138_?)dup
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*641AT[2] rs886049845
NM_024685.4(BBS10):c.1009_1010inv (p.Glu337Ser)
NM_024685.4(BBS10):c.1010A>G (p.Glu337Gly) rs752630373
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr) rs1951764046
NM_024685.4(BBS10):c.1027C>T (p.Arg343Trp)
NM_024685.4(BBS10):c.1032G>T (p.Arg344Ser)
NM_024685.4(BBS10):c.1036A>G (p.Ile346Val)
NM_024685.4(BBS10):c.1048C>A (p.Pro350Thr)
NM_024685.4(BBS10):c.1054G>A (p.Val352Ile) rs779201114
NM_024685.4(BBS10):c.106G>T (p.Val36Phe) rs896544129
NM_024685.4(BBS10):c.1072T>C (p.Ser358Pro)
NM_024685.4(BBS10):c.1081G>A (p.Glu361Lys) rs1565809819
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser) rs1951763406
NM_024685.4(BBS10):c.1133C>T (p.Ser378Phe) rs1951763168
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1145T>G (p.Val382Gly) rs2136090562
NM_024685.4(BBS10):c.1158G>C (p.Leu386Phe)
NM_024685.4(BBS10):c.1160T>C (p.Ile387Thr)
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.1192G>A (p.Val398Ile)
NM_024685.4(BBS10):c.1195C>A (p.Leu399Ile)
NM_024685.4(BBS10):c.1201G>A (p.Gly401Arg)
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr) rs1951762170
NM_024685.4(BBS10):c.1235A>T (p.Asp412Val)
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu) rs1951761840
NM_024685.4(BBS10):c.1277A>G (p.Lys426Arg)
NM_024685.4(BBS10):c.1280A>G (p.Asp427Gly)
NM_024685.4(BBS10):c.1297A>T (p.Met433Leu) rs987403283
NM_024685.4(BBS10):c.1325C>G (p.Thr442Ser)
NM_024685.4(BBS10):c.1336T>C (p.Phe446Leu)
NM_024685.4(BBS10):c.1349A>G (p.Asn450Ser)
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe) rs1951778317
NM_024685.4(BBS10):c.13A>G (p.Met5Val)
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys) rs1022090476
NM_024685.4(BBS10):c.1401G>C (p.Arg467Ser)
NM_024685.4(BBS10):c.1440G>C (p.Leu480Phe)
NM_024685.4(BBS10):c.1442A>G (p.Glu481Gly)
NM_024685.4(BBS10):c.1483A>C (p.Ile495Leu)
NM_024685.4(BBS10):c.1490A>G (p.Asp497Gly)
NM_024685.4(BBS10):c.1505C>A (p.Thr502Lys)
NM_024685.4(BBS10):c.1522A>G (p.Thr508Ala)
NM_024685.4(BBS10):c.1525C>T (p.Pro509Ser)
NM_024685.4(BBS10):c.1535C>T (p.Thr512Ile)
NM_024685.4(BBS10):c.1540A>G (p.Thr514Ala)
NM_024685.4(BBS10):c.155G>A (p.Gly52Asp)
NM_024685.4(BBS10):c.1589G>A (p.Arg530Lys)
NM_024685.4(BBS10):c.158G>C (p.Arg53Pro)
NM_024685.4(BBS10):c.1592A>G (p.Asn531Ser) rs2136090095
NM_024685.4(BBS10):c.1596G>C (p.Arg532Ser)
NM_024685.4(BBS10):c.1604A>T (p.Asp535Val) rs1951758028
NM_024685.4(BBS10):c.1606T>C (p.Tyr536His) rs2136090060
NM_024685.4(BBS10):c.1606T>G (p.Tyr536Asp)
NM_024685.4(BBS10):c.1634C>G (p.Ser545Cys)
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp) rs770880993
NM_024685.4(BBS10):c.1664T>C (p.Ile555Thr)
NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)
NM_024685.4(BBS10):c.166G>C (p.Glu56Gln)
NM_024685.4(BBS10):c.1673_1675del (p.Ser558del)
NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)
NM_024685.4(BBS10):c.1696A>C (p.Asn566His) rs144402299
NM_024685.4(BBS10):c.1724C>T (p.Pro575Leu)
NM_024685.4(BBS10):c.1747A>G (p.Met583Val) rs2136089937
NM_024685.4(BBS10):c.1780A>G (p.Met594Val) rs1951756219
NM_024685.4(BBS10):c.1790G>T (p.Gly597Val) rs1264836197
NM_024685.4(BBS10):c.1799T>C (p.Leu600Ser)
NM_024685.4(BBS10):c.1802C>T (p.Pro601Leu)
NM_024685.4(BBS10):c.1807G>T (p.Gly603Cys)
NM_024685.4(BBS10):c.1811G>C (p.Gly604Ala) rs1951755940
NM_024685.4(BBS10):c.1826T>C (p.Leu609Ser)
NM_024685.4(BBS10):c.1850A>G (p.Tyr617Cys) rs749876979
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg) rs1951755649
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu) rs768385647
NM_024685.4(BBS10):c.187C>A (p.Pro63Thr) rs371540031
NM_024685.4(BBS10):c.187C>G (p.Pro63Ala)
NM_024685.4(BBS10):c.188C>T (p.Pro63Leu) rs2136091508
NM_024685.4(BBS10):c.1891A>G (p.Met631Val)
NM_024685.4(BBS10):c.1896A>G (p.Ile632Met)
NM_024685.4(BBS10):c.1901C>G (p.Ala634Gly) rs12099880
NM_024685.4(BBS10):c.1907C>T (p.Ala636Val) rs113224628
NM_024685.4(BBS10):c.1909C>A (p.Leu637Ile) rs777954013
NM_024685.4(BBS10):c.1909C>G (p.Leu637Val) rs777954013
NM_024685.4(BBS10):c.1915G>A (p.Gly639Ser)
NM_024685.4(BBS10):c.1925A>G (p.Lys642Arg)
NM_024685.4(BBS10):c.1930C>T (p.Leu644Phe)
NM_024685.4(BBS10):c.1964C>T (p.Pro655Leu)
NM_024685.4(BBS10):c.1973A>G (p.Tyr658Cys) rs886049848
NM_024685.4(BBS10):c.1975A>G (p.Ile659Val)
NM_024685.4(BBS10):c.1980A>T (p.Arg660Ser)
NM_024685.4(BBS10):c.199A>G (p.Met67Val)
NM_024685.4(BBS10):c.2002A>G (p.Asn668Asp)
NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)
NM_024685.4(BBS10):c.203T>C (p.Ile68Thr) rs750428156
NM_024685.4(BBS10):c.2057A>G (p.Gln686Arg)
NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn) rs1565809262
NM_024685.4(BBS10):c.2095T>G (p.Leu699Val)
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly) rs529208223
NM_024685.4(BBS10):c.2107A>G (p.Met703Val)
NM_024685.4(BBS10):c.2144A>C (p.His715Pro)
NM_024685.4(BBS10):c.2146A>C (p.Asn716His) rs1951753000
NM_024685.4(BBS10):c.2167C>G (p.Leu723Val) rs1003705267
NM_024685.4(BBS10):c.221G>T (p.Ser74Ile)
NM_024685.4(BBS10):c.22G>T (p.Ala8Ser)
NM_024685.4(BBS10):c.23C>G (p.Ala8Gly) rs1216242140
NM_024685.4(BBS10):c.268C>G (p.Leu90Val)
NM_024685.4(BBS10):c.284G>C (p.Arg95Thr)
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.2_5del (p.Met1fs)
NM_024685.4(BBS10):c.301A>G (p.Thr101Ala)
NM_024685.4(BBS10):c.317A>C (p.Asp106Ala)
NM_024685.4(BBS10):c.326T>C (p.Met109Thr) rs2136091232
NM_024685.4(BBS10):c.329G>A (p.Cys110Tyr) rs2136091229
NM_024685.4(BBS10):c.340C>G (p.Gln114Glu)
NM_024685.4(BBS10):c.350G>A (p.Gly117Glu) rs1951771611
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala) rs1951771611
NM_024685.4(BBS10):c.358T>C (p.Trp120Arg)
NM_024685.4(BBS10):c.368G>A (p.Cys123Tyr) rs2136091207
NM_024685.4(BBS10):c.373C>T (p.Arg125Trp)
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser) rs1592492746
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe) rs750446869
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu) rs769181256
NM_024685.4(BBS10):c.450T>G (p.Ser150Arg) rs573346325
NM_024685.4(BBS10):c.455A>G (p.His152Arg)
NM_024685.4(BBS10):c.473C>G (p.Ser158Trp)
NM_024685.4(BBS10):c.481A>G (p.Lys161Glu)
NM_024685.4(BBS10):c.490A>C (p.Thr164Pro)
NM_024685.4(BBS10):c.501G>C (p.Arg167Ser)
NM_024685.4(BBS10):c.504C>G (p.Ser168Arg)
NM_024685.4(BBS10):c.524_526del (p.Glu175del) rs2136091044
NM_024685.4(BBS10):c.544G>C (p.Val182Leu) rs890996897
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.563A>T (p.Lys188Ile) rs1239540905
NM_024685.4(BBS10):c.572C>T (p.Ser191Leu) rs1951767969
NM_024685.4(BBS10):c.575A>C (p.Gln192Pro)
NM_024685.4(BBS10):c.59T>C (p.Val20Ala)
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys) rs1396355979
NM_024685.4(BBS10):c.62T>C (p.Leu21Pro)
NM_024685.4(BBS10):c.647A>C (p.Asp216Ala)
NM_024685.4(BBS10):c.648C>A (p.Asp216Glu)
NM_024685.4(BBS10):c.650A>G (p.His217Arg)
NM_024685.4(BBS10):c.655G>A (p.Val219Ile)
NM_024685.4(BBS10):c.655G>T (p.Val219Leu)
NM_024685.4(BBS10):c.671G>C (p.Gly224Ala)
NM_024685.4(BBS10):c.685C>A (p.Pro229Thr)
NM_024685.4(BBS10):c.700A>G (p.Arg234Gly)
NM_024685.4(BBS10):c.706A>T (p.Ile236Leu)
NM_024685.4(BBS10):c.708A>G (p.Ile236Met) rs1193290653
NM_024685.4(BBS10):c.733T>G (p.Phe245Val)
NM_024685.4(BBS10):c.745C>T (p.Arg249Cys) rs1242888821
NM_024685.4(BBS10):c.752C>A (p.Ala251Glu)
NM_024685.4(BBS10):c.767G>T (p.Arg256Leu)
NM_024685.4(BBS10):c.791T>G (p.Ile264Ser) rs1236502453
NM_024685.4(BBS10):c.796C>G (p.Pro266Ala)
NM_024685.4(BBS10):c.797C>T (p.Pro266Leu)
NM_024685.4(BBS10):c.800T>A (p.Leu267His) rs1592492358
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_024685.4(BBS10):c.83G>C (p.Cys28Ser)
NM_024685.4(BBS10):c.864_872del (p.Phe288_Met291delinsLeu)
NM_024685.4(BBS10):c.881C>T (p.Thr294Ile)
NM_024685.4(BBS10):c.901C>G (p.Leu301Val) rs1555202666
NM_024685.4(BBS10):c.904C>T (p.His302Tyr) rs954562822
NM_024685.4(BBS10):c.91C>T (p.Pro31Ser)
NM_024685.4(BBS10):c.925C>T (p.Leu309Phe) rs2136090757
NM_024685.4(BBS10):c.92C>T (p.Pro31Leu) rs1486182131
NM_024685.4(BBS10):c.932C>T (p.Ser311Phe) rs1951764875
NM_024685.4(BBS10):c.946C>G (p.Pro316Ala) rs2136090741
NM_024685.4(BBS10):c.94G>A (p.Glu32Lys) rs1208975003
NM_024685.4(BBS10):c.967G>T (p.Ala323Ser)
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg) rs750665609

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