ClinVar Miner

List of variants in gene BBS7 reported as uncertain significance for Bardet-Biedl syndrome 7

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Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398 0.00147
NM_176824.3(BBS7):c.*353G>A rs570995801 0.00119
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608 0.00062
NM_176824.3(BBS7):c.*1526C>T rs546122158 0.00048
NM_176824.3(BBS7):c.223A>G (p.Ile75Val) rs138872188 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.123T>C (p.Asp41=) rs148011561 0.00013
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021 0.00012
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu) rs375084239 0.00011
NM_176824.3(BBS7):c.917T>C (p.Val306Ala) rs373378747 0.00010
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.*724C>T rs1025886041 0.00007
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00007
NM_176824.3(BBS7):c.2108A>G (p.Tyr703Cys) rs375825705 0.00007
NM_176824.3(BBS7):c.*709G>C rs886059050 0.00006
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009 0.00006
NM_176824.3(BBS7):c.*605G>A rs886059051 0.00004
NM_176824.3(BBS7):c.601+3A>G rs747555346 0.00004
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp) rs768987725 0.00003
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser) rs771957843 0.00003
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775 0.00003
NM_176824.3(BBS7):c.94A>G (p.Thr32Ala) rs749914647 0.00003
NM_176824.3(BBS7):c.110T>C (p.Ile37Thr) rs1328906523 0.00002
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr) rs758567781 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.1979A>G (p.Tyr660Cys) rs757308523 0.00002
NM_176824.3(BBS7):c.442A>C (p.Asn148His) rs982037757 0.00002
NM_176824.3(BBS7):c.590A>G (p.Asn197Ser) rs770553026 0.00002
NM_176824.3(BBS7):c.*1361A>T rs544492413 0.00001
NM_176824.3(BBS7):c.*273T>C rs190252263 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.1069T>G (p.Leu357Val) rs906692940 0.00001
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn) rs889491713 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.1442G>A (p.Cys481Tyr) rs886059053 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.1676+7C>G rs1247015446 0.00001
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val) rs751029709 0.00001
NM_176824.3(BBS7):c.1788G>T (p.Glu596Asp) rs756139233 0.00001
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met) rs773771144 0.00001
NM_176824.3(BBS7):c.1940A>G (p.His647Arg) rs1725000311 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.1996C>T (p.His666Tyr) rs1342336710 0.00001
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys) rs1013002037 0.00001
NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile) rs534408910 0.00001
NM_176824.3(BBS7):c.2046T>G (p.Phe682Leu) rs753884144 0.00001
NM_176824.3(BBS7):c.268A>G (p.Ile90Val) rs1197411330 0.00001
NM_176824.3(BBS7):c.277T>G (p.Phe93Val) rs750813339 0.00001
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn) rs775395171 0.00001
NM_176824.3(BBS7):c.391C>T (p.His131Tyr) rs772922826 0.00001
NM_176824.3(BBS7):c.479G>A (p.Arg160His) rs138270119 0.00001
NM_176824.3(BBS7):c.584T>C (p.Leu195Pro) rs1333438376 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.718+3A>G rs1273330717 0.00001
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr) rs766450289 0.00001
NM_176824.3(BBS7):c.790G>A (p.Gly264Arg) rs932897330 0.00001
NM_176824.3(BBS7):c.876C>A (p.Ile292=) rs369319119 0.00001
NM_176824.3(BBS7):c.895A>G (p.Lys299Glu) rs1275186434 0.00001
NM_176824.3(BBS7):c.934+10A>G rs745659988 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.*304A>C rs886059052
NM_176824.3(BBS7):c.*828A>G rs879827169
NM_176824.3(BBS7):c.-98C>T rs546649349
NM_176824.3(BBS7):c.1012A>T (p.Met338Leu) rs1726067918
NM_176824.3(BBS7):c.1043A>G (p.Glu348Gly)
NM_176824.3(BBS7):c.1106C>T (p.Ser369Leu)
NM_176824.3(BBS7):c.1175C>A (p.Ala392Asp)
NM_176824.3(BBS7):c.1230+5G>A rs2476495568
NM_176824.3(BBS7):c.1279G>C (p.Val427Leu)
NM_176824.3(BBS7):c.1328C>G (p.Ala443Gly)
NM_176824.3(BBS7):c.1340G>A (p.Cys447Tyr) rs2149061880
NM_176824.3(BBS7):c.1349A>G (p.Asp450Gly)
NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu) rs761013253
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly) rs1560643809
NM_176824.3(BBS7):c.1487G>T (p.Arg496Ile) rs750133083
NM_176824.3(BBS7):c.1488A>G (p.Arg496=) rs1484511643
NM_176824.3(BBS7):c.1489A>G (p.Thr497Ala)
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser) rs763160690
NM_176824.3(BBS7):c.1538G>C (p.Gly513Ala)
NM_176824.3(BBS7):c.1583T>G (p.Leu528Arg) rs2476446276
NM_176824.3(BBS7):c.1773del (p.Asn592fs) rs2476803371
NM_176824.3(BBS7):c.1786+4A>G
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe) rs1725011147
NM_176824.3(BBS7):c.1890+15C>T rs761350391
NM_176824.3(BBS7):c.1904A>G (p.His635Arg) rs1233960628
NM_176824.3(BBS7):c.199G>C (p.Ala67Pro)
NM_176824.3(BBS7):c.2021T>C (p.Ile674Thr)
NM_176824.3(BBS7):c.2046T>C (p.Phe682=) rs753884144
NM_176824.3(BBS7):c.2104A>G (p.Ser702Gly)
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg) rs1229720963
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn) rs371449601
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly) rs1050167281
NM_176824.3(BBS7):c.278T>C (p.Phe93Ser)
NM_176824.3(BBS7):c.302T>A (p.Leu101His) rs760863058
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe) rs1726975256
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+3_341+6del
NM_176824.3(BBS7):c.455G>T (p.Cys152Phe) rs2476548413
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser) rs370690441
NM_176824.3(BBS7):c.495G>C (p.Leu165Phe) rs2476548129
NM_176824.3(BBS7):c.497C>T (p.Ala166Val) rs1341540567
NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr) rs2476548070
NM_176824.3(BBS7):c.548C>A (p.Ala183Glu)
NM_176824.3(BBS7):c.587A>G (p.His196Arg) rs886059054
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.602-10T>C
NM_176824.3(BBS7):c.638A>G (p.Asp213Gly)
NM_176824.3(BBS7):c.640G>C (p.Gly214Arg) rs1226167451
NM_176824.3(BBS7):c.650C>A (p.Ala217Glu)
NM_176824.3(BBS7):c.715G>A (p.Gly239Arg)
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg) rs1726155956
NM_176824.3(BBS7):c.927A>C (p.Thr309=) rs771825770
NM_176824.3(BBS7):c.970A>G (p.Lys324Glu)

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