ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) rs587777847
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs) rs587777846
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter) rs267607031
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337
NM_006642.5(SDCCAG8):c.741-152G>A

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