ClinVar Miner

List of variants in gene ELOVL4 studied for Stargardt disease 3

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Gene type:
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Total variants: 66
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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.502T>C (p.Leu168=) rs886061802
NM_022726.4(ELOVL4):c.670-24_690delinsACTATTTAATCTGTTTAGTTGTTTACTATTCAGACA
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

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