List of variants studied for MEND syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006579.3(EBP):c.15G>T (p.Ala5=)	rs3048	0.28803
NM_006579.3(EBP):c.139T>C (p.Trp47Arg)	rs878854359
NM_006579.3(EBP):c.141G>T (p.Trp47Cys)	rs587783599
NM_006579.3(EBP):c.224T>A (p.Ile75Asn)	rs797045153
NM_006579.3(EBP):c.424C>T (p.Arg142Cys)
NM_006579.3(EBP):c.439C>T (p.Arg147Cys)	rs886039345
NM_006579.3(EBP):c.53T>C (p.Leu18Pro)	rs104894795
NM_006579.3(EBP):c.556T>C (p.Trp186Arg)	rs2147157059

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.