ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome 12 by Molecular Biology Laboratory, Fundació Puigvert

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847

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