List of variants reported as likely pathogenic for Dyggve-Melchior-Clausen disease

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter)	rs768509996	0.00003
NM_001353214.3(DYM):c.1728+2T>C	rs2087482291	0.00001
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter)	rs780873164	0.00001
GRCh37/hg19 18q21.2(chr18:49286617-49331863)x1
NM_001353214.3(DYM):c.1125+1G>A	rs2094993424
NM_001353214.3(DYM):c.1626-2A>G	rs2514909662
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter)	rs120074162
NM_001353214.3(DYM):c.421+1G>T
NM_001353214.3(DYM):c.54_55insC (p.Lys19fs)	rs2148459355
NM_001353214.3(DYM):c.916C>T (p.Gln306Ter)	rs201540129
NM_001353214.3(DYM):c.99G>A (p.Trp33Ter)	rs2524201617

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.