ClinVar Miner

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

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Gene type:
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Total variants: 26
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HGVS dbSNP
NM_198428.3(BBS9):c.1017-6T>C rs61756571
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
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.1363G>A (p.Ala455Thr) rs11773504
NM_198428.3(BBS9):c.1432+7T>G rs150963080
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892
NM_198428.3(BBS9):c.1694-6T>C rs28622379
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.2632+9C>A rs148654647
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245
NM_198428.3(BBS9):c.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133

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