ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome 4 by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_033028.5(BBS4):c.-17C>T rs56368716 0.06844
NM_033028.4(BBS4):c.-38C>A rs11637927 0.04836
NM_033028.5(BBS4):c.*1G>C rs113678046 0.01165
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361 0.00852
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981 0.00118
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_033028.5(BBS4):c.*608G>T rs12898814

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