List of variants reported as pathogenic for Bardet-Biedl syndrome 4 by Baylor Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.712-1G>A	rs377031435	0.00003
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)	rs775710800	0.00001
NM_033028.5(BBS4):c.1248+2T>C	rs2151055229
NM_033028.5(BBS4):c.157-2A>G	rs113994192
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)	rs886039802
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
NM_033028.5(BBS4):c.332+2_332+3insTT	rs753360929
NM_033028.5(BBS4):c.514dup (p.Ile172fs)

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