ClinVar Miner

List of variants in gene BBS9 reported as likely benign for Bardet-Biedl syndrome 9

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Total variants: 12
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HGVS dbSNP
NM_198428.3(BBS9):c.*444G>A rs75625812
NM_198428.3(BBS9):c.-305T>G rs112060099
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133

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