ClinVar Miner

List of variants reported as uncertain significance for Darier disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_170665.4(ATP2A2):c.*3880C>T rs777680341
NM_170665.4(ATP2A2):c.*3881G>A
NM_170665.4(ATP2A2):c.*3891G>A
NM_170665.4(ATP2A2):c.*3918G>T rs886048954
NM_170665.4(ATP2A2):c.*3983A>C rs749127178
NM_170665.4(ATP2A2):c.*4140C>T
NM_170665.4(ATP2A2):c.*4256G>A
NM_170665.4(ATP2A2):c.*4283G>A
NM_170665.4(ATP2A2):c.*4463A>G rs775478812
NM_170665.4(ATP2A2):c.*4495_*4496del rs56170666
NM_170665.4(ATP2A2):c.*4572A>G
NM_170665.4(ATP2A2):c.*4599G>A rs533684938
NM_170665.4(ATP2A2):c.*4608_*4612TCTAT[1] rs543602946
NM_170665.4(ATP2A2):c.-165C>G
NM_170665.4(ATP2A2):c.-167C>T rs886048947
NM_170665.4(ATP2A2):c.-206C>T
NM_170665.4(ATP2A2):c.-311G>T rs886048946
NM_170665.4(ATP2A2):c.-324G>A rs543056549
NM_170665.4(ATP2A2):c.-335C>A rs886048945
NM_170665.4(ATP2A2):c.-34G>A
NM_170665.4(ATP2A2):c.-37G>C
NM_170665.4(ATP2A2):c.-391C>T
NM_170665.4(ATP2A2):c.-458G>A
NM_170665.4(ATP2A2):c.-469G>C
NM_170665.4(ATP2A2):c.-476C>T rs886048944
NM_170665.4(ATP2A2):c.-482C>T rs886048943
NM_170665.4(ATP2A2):c.-512C>G
NM_170665.4(ATP2A2):c.-543A>G
NM_170665.4(ATP2A2):c.-75C>T rs886048948
NM_170665.4(ATP2A2):c.1185-9T>C
NM_170665.4(ATP2A2):c.1473A>G (p.Arg491=)
NM_170665.4(ATP2A2):c.1804C>G (p.Pro602Ala)
NM_170665.4(ATP2A2):c.1878C>T (p.Asp626=) rs375770050
NM_170665.4(ATP2A2):c.2185G>A (p.Ala729Thr) rs886048953
NM_170665.4(ATP2A2):c.219+15del rs750221249
NM_170665.4(ATP2A2):c.2521+4A>C rs191745868
NM_170665.4(ATP2A2):c.2797G>A (p.Val933Met) rs372102705
NM_170665.4(ATP2A2):c.2824C>T (p.Leu942Phe)
NM_170665.4(ATP2A2):c.2859+11G>A
NM_170665.4(ATP2A2):c.303T>C (p.Asn101=) rs886048950
NM_170665.4(ATP2A2):c.506A>G (p.Lys169Arg)
NM_170665.4(ATP2A2):c.544+10A>G rs886048951
NM_170665.4(ATP2A2):c.545-14C>T
NM_170665.4(ATP2A2):c.555C>G (p.Val185=) rs886048952
NM_170665.4(ATP2A2):c.583C>G (p.Pro195Ala)

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.