ClinVar Miner

List of variants in gene combination CTNND1, TMX2-CTNND1 reported as benign for Blepharocheilodontic syndrome 2

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001085458.2(CTNND1):c.483C>T (p.Asp161=) rs10896644 0.33696

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