ClinVar Miner

List of variants in gene BBS9 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00002
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626 0.00001
NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr) rs1326810030 0.00001
NM_198428.3(BBS9):c.214del (p.Val72fs) rs1384578916 0.00001
NM_198428.3(BBS9):c.442+1G>C rs587777811 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
NC_000007.13:g.(?_33192293)_(33192483_?)dup
NC_000007.13:g.(?_33195240)_(33195324_?)dup
NC_000007.13:g.(?_33312604)_(33313588_?)dup
NM_198428.2:c.2115+21712_2521+234del
NM_198428.3(BBS9):c.1022T>A (p.Leu341Ter)
NM_198428.3(BBS9):c.115A>G (p.Lys39Glu) rs1584179629
NM_198428.3(BBS9):c.118del (p.Lys39_Ile40insTer)
NM_198428.3(BBS9):c.1193C>G (p.Ser398Ter)
NM_198428.3(BBS9):c.1275+1G>A
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.1329+1738C>T
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1432+2T>G
NM_198428.3(BBS9):c.1433-2A>G
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.1552+2T>A rs1563049863
NM_198428.3(BBS9):c.1553-1G>A
NM_198428.3(BBS9):c.1694-2A>G
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123
NM_198428.3(BBS9):c.1760_1764del (p.Arg587fs)
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1869T>G (p.Tyr623Ter)
NM_198428.3(BBS9):c.1927C>T (p.Gln643Ter)
NM_198428.3(BBS9):c.1960G>T (p.Glu654Ter)
NM_198428.3(BBS9):c.1963-1G>T
NM_198428.3(BBS9):c.196G>T (p.Glu66Ter)
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter)
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.2116-2A>T
NM_198428.3(BBS9):c.2153del (p.Gly718fs) rs1369313123
NM_198428.3(BBS9):c.2299-2A>C
NM_198428.3(BBS9):c.2412_2415dup (p.Ser806fs)
NM_198428.3(BBS9):c.2521+1G>T
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.3(BBS9):c.292_328+3delinsAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.360del (p.Gln120fs)
NM_198428.3(BBS9):c.434del (p.Gly145fs)
NM_198428.3(BBS9):c.496C>T (p.Gln166Ter)
NM_198428.3(BBS9):c.702+1G>T
NM_198428.3(BBS9):c.703-1G>C
NM_198428.3(BBS9):c.703-2A>G
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875
NM_198428.3(BBS9):c.793G>T (p.Glu265Ter)
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer) rs2128345173
NM_198428.3(BBS9):c.966G>A (p.Trp322Ter)
NM_198428.3(BBS9):c.998_999insTT (p.Val333_Arg334insTer)

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