ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome 2 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)	rs200021475	0.00002
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)	rs797045155	0.00001
NM_031885.5(BBS2):c.856del (p.Ser286fs)
NM_031885.5(BBS2):c.941-2A>G

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