ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072
NM_198428.3(BBS9):c.2299-20A>C rs17727583
NM_198428.3(BBS9):c.2632+9C>A rs148654647

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