List of variants reported as likely pathogenic for blepharocheilodontic syndrome

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter)	rs2062049610
NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter)	rs2062434410
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_004360.5(CDH1):c.1145del (p.Gly382fs)	rs1555515863
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn)	rs1960893142
NM_004360.5(CDH1):c.1371_1373del (p.Asn458del)	rs2152134773
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)	rs587780537

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.