ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 1 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_198428.3(BBS9):c.2299-20A>C	rs17727583	0.01007
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)	rs75295839	0.00687

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