ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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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.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.1538-9G>T rs770317221
NM_198428.3(BBS9):c.1560G>A (p.Pro520=) rs779586578
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.1767T>C (p.Thr589=) rs534722075
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446
NM_198428.3(BBS9):c.2214C>T (p.Ile738=) rs148536971
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068
NM_198428.3(BBS9):c.2299-20A>C rs17727583
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln) rs142434516
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708
NM_198428.3(BBS9):c.2632+9C>A rs148654647
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527
NM_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161
NM_198428.3(BBS9):c.666T>A (p.Thr222=) rs145385875
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133
NM_198428.3(BBS9):c.887-7C>T rs376333670

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