ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 1 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_024649.5(BBS1):c.48-1G>A	rs751753112
NM_024649.5(BBS1):c.752del (p.Leu251fs)	rs2134784600

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