List of variants in gene combination ATP2A2, LOC130008738 reported as uncertain significance for Darier disease

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

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_170665.4(ATP2A2):c.-335C>A	rs886048945	0.00178
NM_170665.4(ATP2A2):c.-324G>A	rs543056549	0.00159
NM_170665.4(ATP2A2):c.-311G>T	rs886048946	0.00091
NM_170665.4(ATP2A2):c.-458G>A	rs978156826	0.00057
NM_170665.4(ATP2A2):c.-512C>G	rs935214564	0.00011
NM_170665.4(ATP2A2):c.-543A>G	rs964246816	0.00001
NM_170665.4(ATP2A2):c.-391C>T	rs960385666
NM_170665.4(ATP2A2):c.-469G>C	rs1592781428
NM_170665.4(ATP2A2):c.-476C>T	rs886048944
NM_170665.4(ATP2A2):c.-482C>T	rs886048943

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.