ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by GenomeConnect - Invitae Patient Insights Network

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe) rs760909426 0.00020

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