ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome 4 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)	rs914062190	0.00002
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)	rs775710800	0.00001
NM_033028.5(BBS4):c.24+1G>T	rs759520211

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