ClinVar Miner

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

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Total variants: 9
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NM_018848.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_018848.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196
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.157-2A>G rs113994192
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.77-216del rs113994189

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