ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp)	rs751375244	0.00004
NM_031885.5(BBS2):c.806T>G (p.Val269Gly)	rs886039797
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg)	rs786205636

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