List of variants reported as pathogenic for Bardet-Biedl syndrome 1 by OMIM

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Total variants: 6

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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.1645G>T (p.Glu549Ter)	rs121917777	0.00012
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	rs121917778	0.00001
NM_024649.5(BBS1):c.851del (p.Tyr284fs)	rs587777830	0.00001
NM_024649.5(BBS1):c.1642del (p.Leu548fs)	rs1555050404
NM_024649.5(BBS1):c.432+1G>A	rs587777829

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