ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome 16

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Total variants: 2
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HGVS dbSNP
NM_006642.3:c.1069_1356del
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716

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