ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome 9 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_198428.3(BBS9):c.*103T>C rs1050719
NM_198428.3(BBS9):c.*110C>T rs1050721
NM_198428.3(BBS9):c.*138A>C rs59454255
NM_198428.3(BBS9):c.*371G>A rs79271934
NM_198428.3(BBS9):c.*453C>G rs74748415
NM_198428.3(BBS9):c.*549A>G rs73690947
NM_198428.3(BBS9):c.-12+7T>C rs1468797
NM_198428.3(BBS9):c.-259G>A rs73095326
NM_198428.3(BBS9):c.-407C>G rs3750123
NM_198428.3(BBS9):c.-429G>C rs184271281
NM_198428.3(BBS9):c.1017-6T>C rs61756571
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1275+13G>T rs11981364
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504
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.1646C>T (p.Thr549Ile) rs59252892
NM_198428.3(BBS9):c.1694-6T>C rs28622379
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033

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