ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 10 by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_024685.4(BBS10):c.1138dup (p.Arg380fs) rs1555202645
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604

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