ClinVar Miner

List of variants in gene BBS10 reported as likely pathogenic for Bardet-Biedl syndrome

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Total variants: 7
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NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys) rs771325212

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