ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by Sydney Genome Diagnostics, Children's Hospital Westmead

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)	rs137852837

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