ClinVar Miner

List of variants in gene ELOVL4 studied for age-related macular degeneration

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val) rs3812153 0.15428
NM_022726.4(ELOVL4):c.*142G>C rs1512118 0.15383
NM_022726.4(ELOVL4):c.*667T>C rs16891260 0.15372
NM_022726.4(ELOVL4):c.-236C>T rs240307 0.14804
NM_022726.4(ELOVL4):c.*1669T>G rs2991 0.14296
NM_022726.4(ELOVL4):c.*361C>T rs41270557 0.03380
NM_022726.4(ELOVL4):c.*609G>A rs41270555 0.03374
NM_022726.4(ELOVL4):c.*1066T>G rs45594338 0.03371
NM_022726.4(ELOVL4):c.*1551A>G rs55808788 0.02617
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr) rs148594713 0.00636
NM_022726.4(ELOVL4):c.*509C>T rs149410136 0.00424
NM_022726.4(ELOVL4):c.*8T>C rs144822141 0.00421
NM_022726.4(ELOVL4):c.-98C>T rs562763990 0.00344
NM_022726.4(ELOVL4):c.-268T>G rs546271509 0.00343
NM_022726.4(ELOVL4):c.*1050A>G rs114429396 0.00158
NM_022726.4(ELOVL4):c.-103G>C rs530801492 0.00096
NM_022726.4(ELOVL4):c.*40A>C rs185190995 0.00091
NM_022726.4(ELOVL4):c.699G>A (p.Thr233=) rs17853840 0.00073
NM_022726.4(ELOVL4):c.*217C>G rs537775144 0.00051
NM_022726.4(ELOVL4):c.*1511G>A rs547251322 0.00049
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494 0.00031
NM_022726.4(ELOVL4):c.*1048G>A rs569179100 0.00030
NM_022726.4(ELOVL4):c.*377T>A rs77249894 0.00027
NM_022726.4(ELOVL4):c.*349C>T rs1042694825 0.00019
NM_022726.4(ELOVL4):c.*146A>T rs1042725955 0.00017
NM_022726.4(ELOVL4):c.*327A>G rs1001220828 0.00017
NM_022726.4(ELOVL4):c.*1020A>G rs563759730 0.00010
NM_022726.4(ELOVL4):c.*1506A>G rs886061798 0.00010
NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val) rs200915130 0.00008
NM_022726.4(ELOVL4):c.*1568A>G rs886061796 0.00007
NM_022726.4(ELOVL4):c.-163C>A rs374986643 0.00006
NM_022726.4(ELOVL4):c.-35C>T rs751105802 0.00005
NM_022726.4(ELOVL4):c.-235C>T rs886061804 0.00003
NM_022726.4(ELOVL4):c.*1193T>C rs975960939 0.00002
NM_022726.4(ELOVL4):c.*125C>A rs181283522 0.00001
NM_022726.4(ELOVL4):c.*240C>T rs886061801 0.00001
NM_022726.4(ELOVL4):c.*309T>C rs1034507611 0.00001
NM_022726.4(ELOVL4):c.*363G>A rs1376229769 0.00001
NM_022726.4(ELOVL4):c.*606G>T rs907879501 0.00001
NM_022726.4(ELOVL4):c.*803T>C rs542722575 0.00001
NM_022726.4(ELOVL4):c.*905T>C rs886061799 0.00001
NM_022726.4(ELOVL4):c.*950T>C rs1458099165 0.00001
NM_022726.4(ELOVL4):c.*999A>G rs1172216845 0.00001
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=) rs201014417 0.00001
NM_022726.4(ELOVL4):c.735A>G (p.Lys245=) rs769435926 0.00001
NM_022726.4(ELOVL4):c.*1038A>G rs578261043
NM_022726.4(ELOVL4):c.*1241T>G rs1582042288
NM_022726.4(ELOVL4):c.*1423A>G rs1774136809
NM_022726.4(ELOVL4):c.*163C>T rs945949866
NM_022726.4(ELOVL4):c.*360A>G rs537318852
NM_022726.4(ELOVL4):c.*373A>T rs886061800
NM_022726.4(ELOVL4):c.-125C>G rs886061803
NM_022726.4(ELOVL4):c.-1G>A rs1330070846
NM_022726.4(ELOVL4):c.-236C>G rs240307
NM_022726.4(ELOVL4):c.-248G>A rs886061805
NM_022726.4(ELOVL4):c.-252G>A rs539142746
NM_022726.4(ELOVL4):c.-258C>T rs886061806
NM_022726.4(ELOVL4):c.-262A>G rs886061807
NM_022726.4(ELOVL4):c.-90G>C rs62407622
NM_022726.4(ELOVL4):c.101-6C>G rs1774344408
NM_022726.4(ELOVL4):c.215del (p.Pro72fs) rs746047636
NM_022726.4(ELOVL4):c.502T>C (p.Leu168=) rs886061802
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) rs587777598
NM_022726.4(ELOVL4):c.789_793delinsAAC (p.Asn264fs) rs587776613
NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs) rs1131690770
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter) rs104893946

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.