ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_024649.5(BBS1):c.*219A>G rs74451472 0.00057
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005

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