ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 4 by Genome-Nilou Lab

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333 0.95849
NM_033028.5(BBS4):c.1036+114G>A rs9806635 0.95845
NM_033028.5(BBS4):c.1248+68G>A rs12324395 0.95651
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_033028.5(BBS4):c.76+19G>T rs4777527 0.94399
NM_033028.5(BBS4):c.643-102T>C rs6495015 0.54330
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665

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