ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)	rs199633103	0.00006
NM_024649.5(BBS1):c.951+1G>A	rs746875134

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