List of variants reported as pathogenic for Bardet-Biedl syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	rs121917777	0.00012
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_024649.5(BBS1):c.724-1G>C	rs748523268	0.00003
NM_024649.5(BBS1):c.118del (p.Cys40fs)	rs1490351829	0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)	rs745656125	0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	rs786204444	0.00001
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	rs768443448
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)	rs1057516451
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)	rs1057517143
NM_024649.5(BBS1):c.887del (p.Ile296fs)	rs794727006
NM_024649.5(BBS1):c.951+58C>T	rs1856346961

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