ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 16 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016953.4(PDE11A):c.171del (p.Thr58fs) rs529789124 0.00056
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716

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