ClinVar Miner

List of variants reported as likely pathogenic for blepharocheilodontic syndrome 2 by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

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_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193

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