List of variants reported as pathogenic for blepharocheilodontic syndrome by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter)	rs1555057581
NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter)	rs1277132301
NM_001085458.2(CTNND1):c.606del (p.Pro203fs)	rs1555053981
NM_004360.5(CDH1):c.1320+1G>C	rs886039685
NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn)	rs1555515925
NM_004360.5(CDH1):c.2028C>A (p.Asp676Glu)	rs1555517099
NM_004360.5(CDH1):c.760G>T (p.Asp254Tyr)	rs1555515445

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.