List of variants reported as benign for Bardet-Biedl syndrome by GeneReviews

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)	rs2277598	0.52665
NM_170784.3(MKKS):c.117C>T (p.Pro39=)	rs16991547	0.18435
NM_170784.3(MKKS):c.534C>T (p.Ile178=)	rs17852625	0.14082
NM_033028.5(BBS4):c.1451-45T>C	rs75847960	0.08550
NM_033028.5(BBS4):c.*1G>C	rs113678046	0.01165
NM_170784.3(MKKS):c.-74G>A	rs113994194	0.00070
NM_033028.5(BBS4):c.17T>C (p.Val6Ala)	rs113994185	0.00001
NM_033028.5(BBS4):c.18C>T (p.Val6=)	rs113994187	0.00001
NM_033028.5(BBS4):c.20C>T (p.Ala7Val)	rs113994186	0.00001
NM_033028.5(BBS4):c.42A>G (p.Val14=)	rs113994181	0.00001
NM_033028.5(BBS4):c.91A>G (p.Ile31Val)	rs113994182	0.00001
NM_033028.5(BBS4):c.-17C>A	rs56368716
NM_033028.5(BBS4):c.-6G>A	rs367543011
NM_033028.5(BBS4):c.28dup (p.Thr10fs)	rs113994184
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala)	rs113994183
NM_170784.3(MKKS):c.-683_-674dup	rs16996729

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