List of variants reported as pathogenic for blepharocheilodontic syndrome

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)	rs587780784	0.00001
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
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)	rs587782798
NM_004360.5(CDH1):c.1320+1G>C	rs886039685
NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn)	rs1555515925
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)	rs886039612
NM_004360.5(CDH1):c.2028C>A (p.Asp676Glu)	rs1555517099
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)	rs587781276
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)	rs876658932
NM_004360.5(CDH1):c.382del (p.His128fs)	rs1555514492
NM_004360.5(CDH1):c.760G>T (p.Asp254Tyr)	rs1555515445

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