ClinVar Miner

List of variants in gene combination CTNND1, TMX2-CTNND1 reported as likely pathogenic by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu) rs567875341 0.00004
NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe) rs775782206 0.00003
NM_001085458.2(CTNND1):c.1496A>G (p.Asp499Gly) rs1314067686
NM_001085458.2(CTNND1):c.1750C>T (p.Arg584Trp) rs780642639
NM_001085458.2(CTNND1):c.2088G>T (p.Trp696Cys) rs2062949363
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193

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