List of variants reported as benign for Keratosis follicularis by Illumina Laboratory Services, Illumina

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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_170665.4(ATP2A2):c.-403C>G	rs3026433	0.15991
NM_170665.4(ATP2A2):c.2172G>A (p.Ala724=)	rs56243033	0.04683
NM_170665.4(ATP2A2):c.1420-8C>G	rs112499287	0.02475
NM_170665.4(ATP2A2):c.81A>G (p.Glu27=)	rs3026434	0.01033
NM_170665.4(ATP2A2):c.-500T>C	rs550888717	0.00816
NM_170665.4(ATP2A2):c.*4580C>T	rs9540	0.00774
NM_170665.4(ATP2A2):c.*4047A>G	rs75547854	0.00700
NM_170665.4(ATP2A2):c.-10C>G	rs201929640	0.00695
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)	rs55984131	0.00693
NM_170665.4(ATP2A2):c.2628A>G (p.Lys876=)	rs149324360	0.00647
NM_170665.4(ATP2A2):c.-240G>A	rs577127824	0.00568
NM_170665.4(ATP2A2):c.*4203A>G	rs114474435	0.00354
NM_170665.4(ATP2A2):c.1323A>G (p.Thr441=)	rs148550709	0.00183
NM_170665.4(ATP2A2):c.1167T>C (p.Tyr389=)	rs115016152	0.00137
NM_170665.4(ATP2A2):c.*4428C>T	rs55825821	0.00135
NM_170665.4(ATP2A2):c.-274G>C	rs558822961	0.00081
NM_170665.4(ATP2A2):c.2202G>A (p.Leu734=)	rs12312588	0.00064
NM_170665.4(ATP2A2):c.2319-12G>A	rs369489819	0.00055
NM_170665.4(ATP2A2):c.94C>T (p.Leu32Phe)	rs141335001	0.00048
NM_170665.4(ATP2A2):c.1096-12C>G	rs138711897	0.00046
NM_170665.4(ATP2A2):c.-15C>T	rs373966549	0.00036
NM_170665.4(ATP2A2):c.137-12T>C	rs376032579	0.00022
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=)	rs140766323	0.00019
NM_170665.4(ATP2A2):c.1287+3A>G	rs376753206	0.00017
NM_170665.4(ATP2A2):c.*4578G>A	rs143926209	0.00013
NM_170665.4(ATP2A2):c.*3875G>A	rs772831610	0.00010
NM_170665.4(ATP2A2):c.*3823A>C	rs193112984	0.00003
NM_170665.4(ATP2A2):c.1912A>G (p.Ile638Val)	rs199966458	0.00002
NM_170665.4(ATP2A2):c.2742-6C>T	rs201579013	0.00001

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.