List of variants reported as pathogenic for Bardet-Biedl syndrome 1 by Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_152384.3(BBS5):c.619-1G>C	rs753234582	0.00004
NM_033028.5(BBS4):c.332+8T>C	rs1456405256	0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	rs121918327	0.00001
GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs)	rs2150737232
NM_152618.3(BBS12):c.1685del (p.Asn562fs)
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)	rs760165634

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