List of variants reported as pathogenic for Symmetrical dyschromatosis of extremities

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_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser)	rs28936681	0.00003
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter)	rs121912421
NM_001111.5(ADAR):c.2077C>T (p.Gln693Ter)	rs121912423
NM_001111.5(ADAR):c.2768T>C (p.Leu923Pro)	rs28936680
NM_001111.5(ADAR):c.2854A>T (p.Lys952Ter)	rs121912422
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	rs398122822
NM_001111.5(ADAR):c.638del (p.Pro213fs)	rs1571110353
NM_001111.5(ADAR):c.941_942del (p.Ser314fs)	rs387906541

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.