List of variants in gene ATP2A2, LOC130008738 studied for Keratosis follicularis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_170665.4(ATP2A2):c.-403C>G	rs3026433	0.15991
NM_170665.4(ATP2A2):c.-500T>C	rs550888717	0.00816
NM_170665.4(ATP2A2):c.-324G>A	rs543056549	0.00152
NM_170665.4(ATP2A2):c.-311G>T	rs886048946	0.00088
NM_170665.4(ATP2A2):c.-335C>A	rs886048945	0.00076
NM_170665.4(ATP2A2):c.-458G>A	rs978156826	0.00054
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.