ClinVar Miner

List of variants in gene CTNND1, TMX2-CTNND1 studied for Blepharocheilodontic syndrome 2

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001085458.2(CTNND1):c.483C>T (p.Asp161=) rs10896644 0.33696
NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter) rs2062049610
NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter) rs1555057581
NM_001085458.2(CTNND1):c.1186C>G (p.Arg396Gly) rs533993840
NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter) rs2062434410
NM_001085458.2(CTNND1):c.1754del (p.Asn585fs) rs2137277484
NM_001085458.2(CTNND1):c.1837C>T (p.Pro613Ser)
NM_001085458.2(CTNND1):c.2091G>A (p.Thr697=) rs2137384936
NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter) rs1277132301
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)
NM_001085458.2(CTNND1):c.566dup (p.Pro190fs)
NM_001085458.2(CTNND1):c.606del (p.Pro203fs) rs1555053981

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