ClinVar Miner

List of variants in gene BBS9 reported as pathogenic for Bardet-Biedl syndrome

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Total variants: 18
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HGVS dbSNP
NC_000007.13:g.(?_33423258)_(33427776_?)dup
NM_198428.2(BBS9):c.(?_-1)_328+?del
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_198428.3(BBS9):c.113-2A>G rs1562686929
NM_198428.3(BBS9):c.1370T>A (p.Leu457Ter) rs762511626
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992
NM_198428.3(BBS9):c.263+1G>A 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.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys) rs1562917450
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
NM_198428.3(BBS9):c.956del (p.Thr319fs) rs886039799

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