ClinVar Miner

List of variants in gene BBS7 studied for Bardet-Biedl syndrome 7

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
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.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.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.1991C>T (p.Pro664Leu) rs375084239 0.00011
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021 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.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.*1139T>C rs542533305 0.00008
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109 0.00008
NM_176824.3(BBS7):c.*932T>G rs3217755 0.00007
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.632C>T (p.Thr211Ile) rs119466002 0.00006
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009 0.00006
NM_176824.3(BBS7):c.1511+9A>G rs192602290 0.00005
NM_176824.3(BBS7):c.*605G>A rs886059051 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.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.1585C>T (p.Pro529Ser) rs771957843 0.00003
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775 0.00003
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.1755A>G (p.Thr585=) rs1725022392 0.00002
NM_176824.3(BBS7):c.442A>C (p.Asn148His) rs982037757 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.1038-16A>G rs201278442 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.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.1458C>G (p.Tyr486Ter) rs1470030897 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.1916C>T (p.Thr639Met) rs773771144 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.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.2136C>T (p.Phe712=) rs199782217 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.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_176824.3(BBS7):c.849+1G>C rs763719688 0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro) rs889417696 0.00001
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile) rs1488474028 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.*273T>C rs190252263
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.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.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs) rs577434138
NM_176824.3(BBS7):c.110T>C (p.Ile37Thr)
NM_176824.3(BBS7):c.1158A>T (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.115_116del (p.Asp39fs)
NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)
NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs) rs1725961307
NM_176824.3(BBS7):c.1231-15dup rs747444432
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.1340G>A (p.Cys447Tyr) rs2149061880
NM_176824.3(BBS7):c.1371+1G>A rs1578537379
NM_176824.3(BBS7):c.1372-19C>G rs1725398365
NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu)
NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs) rs1725388372
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly) rs1560643809
NM_176824.3(BBS7):c.1489del (p.Thr497fs)
NM_176824.3(BBS7):c.149dup (p.Lys51fs)
NM_176824.3(BBS7):c.1512-1G>A rs2149054421
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser) rs763160690
NM_176824.3(BBS7):c.1551del (p.Phe517fs)
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.1677-2A>G
NM_176824.3(BBS7):c.1685_1686del (p.Glu562fs)
NM_176824.3(BBS7):c.1685del (p.Glu562fs)
NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) rs878853352
NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe) rs1725011147
NM_176824.3(BBS7):c.1890+15C>T rs761350391
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1940A>G (p.His647Arg)
NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys) rs757308523
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg) rs1229720963
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly) rs1050167281
NM_176824.3(BBS7):c.288_289del (p.Gly97fs)
NM_176824.3(BBS7):c.293_294del (p.Lys98fs)
NM_176824.3(BBS7):c.302T>A (p.Leu101His) rs760863058
NM_176824.3(BBS7):c.328del (p.Ser110fs)
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+2T>C
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser) rs370690441
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.517dup (p.Arg173fs)
NM_176824.3(BBS7):c.526C>T (p.Gln176Ter) rs2149084783
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.613_614del (p.Glu205fs)
NM_176824.3(BBS7):c.640G>C (p.Gly214Arg)
NM_176824.3(BBS7):c.649dup (p.Ala217fs) rs886044668
NM_176824.3(BBS7):c.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.718+1G>C
NM_176824.3(BBS7):c.719-2A>G
NM_176824.3(BBS7):c.725dup (p.Leu242fs)
NM_176824.3(BBS7):c.72del (p.Pro25fs)
NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)
NM_176824.3(BBS7):c.849+1G>A
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg) rs1726157542
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg) rs1726155956
NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)
NM_176824.3(BBS7):c.934+17T>C rs1165897878
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)

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