ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212

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