ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Sharon lab,Hadassah-Hebrew University Medical Center

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Total variants: 4
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HGVS dbSNP
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) rs200865108
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_033028.5(BBS4):c.424G>A (p.Gly142Arg) rs1595935759
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys) rs1233058112

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