ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter) rs2062049610
NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter) rs2062434410
NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter) rs2137392998
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)

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