ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome by Integrated Genetics/Laboratory Corporation of America

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Total variants: 10
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HGVS dbSNP
NM_024649.5(BBS1):c.1126_1130CTTTG[1] (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_031885.4(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) rs567573386
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)

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