ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 1 by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) rs1565289799

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