ClinVar Miner

List of variants in gene combination ELP4, PAX6 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.*3509A>G rs542906080 0.04927
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_019040.5(ELP4):c.*3425C>T rs3026399 0.00813
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_019040.5(ELP4):c.*4172A>C rs73477658 0.00701
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_019040.5(ELP4):c.*3713A>T rs138881442 0.00236
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_019040.5(ELP4):c.*4974C>T rs138035131 0.00148
NM_019040.5(ELP4):c.*1302T>C rs146579778 0.00120
NM_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
NM_019040.5(ELP4):c.*2982G>A rs191399467 0.00076
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_019040.5(ELP4):c.*3528A>G rs143185259 0.00060
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_019040.5(ELP4):c.*1783T>G rs140971065 0.00030
NM_019040.5(ELP4):c.*3433G>T rs192709453 0.00019
NM_019040.5(ELP4):c.*3383C>T rs541022955 0.00017
NM_019040.5(ELP4):c.*4806T>A rs189545730 0.00011
NM_019040.5(ELP4):c.*5123T>A rs576321279 0.00008
NM_019040.5(ELP4):c.*3092T>C rs371438311 0.00006
NM_019040.5(ELP4):c.*2664G>A rs567720234 0.00005
NM_019040.5(ELP4):c.*1714C>G rs180780893 0.00002
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_019040.5(ELP4):c.*4251G>A rs3026396

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.