ClinVar Miner

List of variants in gene BBS9 reported as benign for Bardet-Biedl syndrome 1

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076

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