ClinVar Miner

List of variants in gene BBS9 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
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.1017-6T>C rs61756571
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1275+13G>T rs11981364
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.1546C>A (p.Pro516Thr) rs73688160
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.1694-6T>C rs28622379
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.1993C>T (p.Leu665Phe) rs116262072
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446
NM_198428.3(BBS9):c.2299-20A>C rs17727583
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln) rs142434516
NM_198428.3(BBS9):c.2632+9C>A rs148654647
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527
NM_198428.3(BBS9):c.329-6C>T rs1445078208
NM_198428.3(BBS9):c.34A>G (p.Thr12Ala) rs4498440
NM_198428.3(BBS9):c.887-7C>T rs376333670

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