ClinVar Miner

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

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Total variants: 4
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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.1690G>T (p.Ala564Ser)
NM_031885.5(BBS2):c.256_278dup (p.Val94fs) rs2144193013

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