ClinVar Miner

List of variants in gene BBS12 reported as likely pathogenic for Bardet-Biedl syndrome

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Total variants: 3
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NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.2056_2059ACAG[1] (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328

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