ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)	rs121908581	0.00001
NM_024685.4(BBS10):c.271dup (p.Cys91fs)	rs549625604

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