List of variants reported as likely pathogenic for Bardet-Biedl syndrome 1 by Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	rs768933093	0.00005
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)	rs148374859	0.00004
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)	rs778431173	0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	rs28938468	0.00001
NM_031885.5(BBS2):c.1528G>T (p.Val510Phe)
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)	rs1727380420

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