ClinVar Miner

List of variants in gene BBS4 reported as benign for Bardet-Biedl syndrome 4

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Total variants: 9
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HGVS dbSNP
NM_033028.5(BBS4):c.*1G>C rs113678046
NM_033028.5(BBS4):c.*608G>T rs12898814
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981
NM_033028.5(BBS4):c.24+8C>T rs200055760
NM_033028.5(BBS4):c.77-6G>A rs8033604

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