ClinVar Miner

List of variants reported as likely 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_170784.3(MKKS):c.837del (p.Gly280fs)	rs776004321	0.00001
NM_024649.5(BBS1):c.1110+3G>C	rs762276925
NM_033028.5(BBS4):c.1106+2T>A	rs886041464

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