List of variants in gene combination CTNND1, TMX2-CTNND1 reported as pathogenic for blepharocheilodontic syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter)	rs1555057581
NM_001085458.2(CTNND1):c.1381C>T (p.Arg461Ter)
NM_001085458.2(CTNND1):c.1754del (p.Asn585fs)	rs2137277484
NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter)	rs1277132301
NM_001085458.2(CTNND1):c.2550+1G>A
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)	rs1591672193
NM_001085458.2(CTNND1):c.2638+2T>G
NM_001085458.2(CTNND1):c.566dup (p.Pro190fs)
NM_001085458.2(CTNND1):c.606del (p.Pro203fs)	rs1555053981

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