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

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.712-1G>A	rs377031435	0.00003
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	rs28938468	0.00001
NM_033028.5(BBS4):c.187C>T (p.Gln63Ter)	rs1338469029	0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)	rs775710800	0.00001
NM_033028.5(BBS4):c.1180C>T (p.Gln394Ter)
NM_033028.5(BBS4):c.1226del (p.Ser409fs)	rs886039800
NM_033028.5(BBS4):c.1248+1G>T	rs1419924139
NM_033028.5(BBS4):c.1248+2T>C	rs2151055229
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs)	rs1281334523
NM_033028.5(BBS4):c.157-2A>G	rs113994192
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter)	rs886039802
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
NM_033028.5(BBS4):c.31C>T (p.Gln11Ter)
NM_033028.5(BBS4):c.332+2_332+3insTT	rs753360929
NM_033028.5(BBS4):c.406-2A>G	rs113994191
NM_033028.5(BBS4):c.514dup (p.Ile172fs)
NM_033028.5(BBS4):c.77-216del	rs113994189
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)	rs121434632

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