ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 2 by Department of Pediatrics, National Cheng-Kung University Hospital

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.534+1G>T	rs773862084	0.00004
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)	rs201063733	0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs)	rs1367927635	0.00001
NM_024753.5(TTC21B):c.264_267dupTAGA	rs748514860

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