ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)	rs147030232	0.00003
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)	rs201196733	0.00001
NM_031885.5(BBS2):c.256_278dup (p.Val94fs)	rs2144193013

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