ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by GeneReviews

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Total variants: 25
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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_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_033028.5(BBS4):c.-17C>A rs56368716
NM_033028.5(BBS4):c.-6G>A rs367543011
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.28dup (p.Thr10fs) rs113994184
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala) rs113994183
NM_170784.3(MKKS):c.-683_-674dup rs16996729
NM_170784.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196

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