ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 10 by Department of Medical Genetics, Faculty of Medicine,Ege University

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_024685.4(BBS10):c.1024dup (p.Ile342fs) rs869025210
NM_024685.4(BBS10):c.1547del (p.Thr516fs) rs869025211
NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs) rs869025209

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