ClinVar Miner

List of variants in gene BBS9 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 0.00003
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter) rs769256027 0.00003
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00002
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter) rs998200637 0.00001
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter) rs370729939 0.00001
NM_198428.3(BBS9):c.1175del (p.Ile392fs) rs1815414782 0.00001
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626 0.00001
NM_198428.3(BBS9):c.1561C>T (p.Arg521Ter) rs748601675 0.00001
NM_198428.3(BBS9):c.1693+1G>A rs1295000119 0.00001
NM_198428.3(BBS9):c.214del (p.Val72fs) rs1384578916 0.00001
NM_198428.3(BBS9):c.263+1G>A rs137962929 0.00001
NM_198428.3(BBS9):c.442+1G>C rs587777811 0.00001
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter) rs781174906 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
GRCh37/hg19 7p14.3(chr7:33191099-33257303)x1
GRCh37/hg19 7p14.3(chr7:33431363-33552840)x1
NC_000007.13:g.(?_33185855)_(33195324_?)del
NC_000007.13:g.(?_33296828)_(33313588_?)del
NC_000007.13:g.(?_33296828)_(33427776_?)del
NC_000007.13:g.(?_33376033)_(33427776_?)del
NC_000007.13:g.(?_33388660)_(33388802_?)del
NC_000007.13:g.(?_33388660)_(33397627_?)del
NC_000007.13:g.(?_33423258)_(33427776_?)dup
NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)del
NM_198428.2(BBS9):c.(?_-1)_328+?del
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
NM_198428.3(BBS9):c.1027G>T (p.Gly343Ter)
NM_198428.3(BBS9):c.104_112+4del rs869025208
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.1099C>T (p.Gln367Ter)
NM_198428.3(BBS9):c.113-2A>G rs1562686929
NM_198428.3(BBS9):c.1167del (p.Ile391fs) rs886042258
NM_198428.3(BBS9):c.1195C>T (p.Gln399Ter)
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.1283_1286del (p.Thr428fs)
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) rs2128667543
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter) rs1401715737
NM_198428.3(BBS9):c.1624A>T (p.Lys542Ter)
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1789+1G>C
NM_198428.3(BBS9):c.1789+1G>T rs201938124
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.1962_1963insAAATTATTCATTGGAG (p.Leu655fs) rs1825528981
NM_198428.3(BBS9):c.1999_2003del (p.Ser667fs)
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
NM_198428.3(BBS9):c.2023del (p.Ala675fs)
NM_198428.3(BBS9):c.2045dup (p.Arg683fs) rs587777810
NM_198428.3(BBS9):c.2097dup (p.Asp700fs) rs2128756914
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.2223_2224delinsTT (p.Trp741_Gln742delinsCysTer)
NM_198428.3(BBS9):c.2245_2260del (p.Val749fs)
NM_198428.3(BBS9):c.2368G>T (p.Glu790Ter)
NM_198428.3(BBS9):c.244del (p.Glu82fs) rs2128108391
NM_198428.3(BBS9):c.2503_2504dup (p.Gln835fs)
NM_198428.3(BBS9):c.2536del (p.Ile846fs) rs1864348159
NM_198428.3(BBS9):c.2559_2562del (p.Glu853fs)
NM_198428.3(BBS9):c.263+1G>T rs137962929
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.3(BBS9):c.27G>A (p.Trp9Ter)
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.319dup (p.Ser107fs)
NM_198428.3(BBS9):c.358C>T (p.Gln120Ter)
NM_198428.3(BBS9):c.408C>A (p.Cys136Ter)
NM_198428.3(BBS9):c.421G>A (p.Gly141Arg) rs137852857
NM_198428.3(BBS9):c.434del (p.Gly145fs)
NM_198428.3(BBS9):c.459C>A (p.Cys153Ter)
NM_198428.3(BBS9):c.542C>G (p.Pro181Arg) rs779588488
NM_198428.3(BBS9):c.621_702+3del
NM_198428.3(BBS9):c.702+1G>A rs2128325966
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys) rs1562917450
NM_198428.3(BBS9):c.751dup (p.Val251fs) rs2128344662
NM_198428.3(BBS9):c.754del (p.Ser252fs) rs2128344706
NM_198428.3(BBS9):c.763C>T (p.Gln255Ter)
NM_198428.3(BBS9):c.801_803del (p.Phe269del) rs780367770
NM_198428.3(BBS9):c.808dup (p.Cys270fs)
NM_198428.3(BBS9):c.829del (p.Ile277fs)
NM_198428.3(BBS9):c.839dup (p.Met280fs)
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer) rs2128345173
NM_198428.3(BBS9):c.956del (p.Thr319fs) rs886039799
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)

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