ClinVar Miner

List of variants reported as pathogenic for Blepharocheilodontic syndrome 2

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter) rs1555057581
NM_001085458.2(CTNND1):c.1754del (p.Asn585fs) rs2137277484
NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter) rs1277132301
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001085458.2(CTNND1):c.566dup (p.Pro190fs)
NM_001085458.2(CTNND1):c.606del (p.Pro203fs) rs1555053981

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