ClinVar Miner

List of variants in gene EIF2AK4 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_001013703.4(EIF2AK4):c.2922+155C>T rs2412457 0.99999
NM_001013703.4(EIF2AK4):c.2250-65A>G rs7174071 0.99018
NM_001013703.4(EIF2AK4):c.2250-232A>G rs7173708 0.98977
NM_001013703.4(EIF2AK4):c.4729-121C>T rs2291621 0.93146
NM_001013703.4(EIF2AK4):c.4562-8G>T rs2250402 0.92552
NM_001013703.4(EIF2AK4):c.4174-17G>T rs12916520 0.92503
NM_001013703.4(EIF2AK4):c.860-272A>G rs472027 0.91892
NM_001013703.4(EIF2AK4):c.744-311G>A rs536503 0.91707
NM_001013703.4(EIF2AK4):c.859+55A>G rs510949 0.91705
NM_001013703.4(EIF2AK4):c.744-262C>G rs548091 0.91704
NM_001013703.4(EIF2AK4):c.859+232T>C rs509200 0.91698
NM_001013703.4(EIF2AK4):c.1667A>G (p.Glu556Gly) rs2307105 0.91697
NM_001013703.4(EIF2AK4):c.1660+189T>C rs2307106 0.91693
NM_001013703.4(EIF2AK4):c.744-242G>T rs1436276 0.91690
NM_001013703.4(EIF2AK4):c.4660-295G>C rs2898984 0.90376
NM_001013703.4(EIF2AK4):c.3408-136T>C rs2279581 0.88167
NM_001013703.4(EIF2AK4):c.4303-194G>A rs3816899 0.88103
NM_001013703.4(EIF2AK4):c.2766+71A>G rs11633992 0.81763
NM_001013703.4(EIF2AK4):c.595-132A>G rs503830 0.72298
NM_001013703.4(EIF2AK4):c.2403+103T>C rs8030980 0.67833
NM_001013703.4(EIF2AK4):c.2687-168C>T rs11070241 0.67757
NM_001013703.4(EIF2AK4):c.2686+93C>T rs7178419 0.67701
NM_001013703.4(EIF2AK4):c.4065+261del rs1171836860 0.67078
NM_001013703.4(EIF2AK4):c.3693+312C>T rs3816900 0.62210
NM_001013703.4(EIF2AK4):c.3759+295G>A rs2412464 0.58550
NM_001013703.4(EIF2AK4):c.4065+306T>C rs35697496 0.47457
NM_001013703.4(EIF2AK4):c.1018-41G>A rs522933 0.47055
NM_001013703.4(EIF2AK4):c.744-166C>T rs547183 0.46379
NM_001013703.4(EIF2AK4):c.2250-233C>T rs12901065 0.46308
NM_001013703.4(EIF2AK4):c.4065+263_4065+281del rs1567006767 0.45444
NM_001013703.4(EIF2AK4):c.2631+123T>C rs2307104 0.40023
NM_001013703.4(EIF2AK4):c.360+308A>G rs527610 0.39721
NM_001013703.4(EIF2AK4):c.3408-14G>C rs2279580 0.35755
NM_001013703.4(EIF2AK4):c.4215C>T (p.Gly1405=) rs3207297 0.35044
NM_001013703.4(EIF2AK4):c.860-284G>A rs8035930 0.34964
NM_001013703.4(EIF2AK4):c.743+153G>A rs8030025 0.34846
NM_001013703.4(EIF2AK4):c.2249+7G>A rs34298786 0.34203
NM_001013703.4(EIF2AK4):c.145-81A>T rs524240 0.33192
NM_001013703.4(EIF2AK4):c.257+183C>A rs500200 0.33158
NM_001013703.4(EIF2AK4):c.145-206A>G rs525910 0.32928
NM_001013703.4(EIF2AK4):c.3576+47T>G rs2279579 0.32005
NM_001013703.4(EIF2AK4):c.1661-205C>T rs8030687 0.30624
NM_001013703.4(EIF2AK4):c.2869-226G>A rs2291626 0.27896
NM_001013703.4(EIF2AK4):c.4174-262G>A rs12916007 0.25570
NM_001013703.4(EIF2AK4):c.*16G>A rs2898985 0.17137
NM_001013703.4(EIF2AK4):c.3576+295G>T rs12164905 0.16078
NM_001013703.4(EIF2AK4):c.1321A>C (p.Ile441Leu) rs2291627 0.14091
NM_001013703.4(EIF2AK4):c.2632-168T>A rs28714278 0.13557
NM_001013703.4(EIF2AK4):c.*5A>G rs4594236 0.12914
NM_001013703.4(EIF2AK4):c.3916G>T (p.Gly1306Cys) rs35602605 0.12451
NM_001013703.4(EIF2AK4):c.4728+43T>C rs4432245 0.12243
NM_001013703.4(EIF2AK4):c.3358-201C>T rs2291623 0.10232
NM_001013703.4(EIF2AK4):c.514-179G>A rs17720604 0.10224
NM_001013703.4(EIF2AK4):c.2526+233G>A rs12912442 0.09413
NM_001013703.4(EIF2AK4):c.2922+294T>C rs68131514 0.08982
NM_001013703.4(EIF2AK4):c.4065+263_4065+279del rs1567006763 0.08835
NM_001013703.4(EIF2AK4):c.258-350T>C rs34513040 0.08728
NM_001013703.4(EIF2AK4):c.361-180A>G rs7169266 0.08724
NM_001013703.4(EIF2AK4):c.743+129_743+132del rs143220099 0.08520
NC_000015.10:g.39933819G>A rs72729452 0.08039
NM_001013703.4(EIF2AK4):c.744-99G>A rs17720964 0.07964
NM_001013703.4(EIF2AK4):c.2249+34G>T rs77645462 0.07626
NM_001013703.4(EIF2AK4):c.4066-82G>A rs17848496 0.07407
NM_001013703.4(EIF2AK4):c.1819-71G>A rs12441486 0.06753
NM_001013703.4(EIF2AK4):c.1660+95T>G rs2307107 0.06666
NM_001013703.4(EIF2AK4):c.360+300G>A rs78457082 0.05752
NM_001013703.4(EIF2AK4):c.514-269A>C rs16970035 0.05501
NM_001013703.4(EIF2AK4):c.4562-100C>T rs2307101 0.05471
NM_001013703.4(EIF2AK4):c.1819-189G>C rs75241557 0.05460
NM_001013703.4(EIF2AK4):c.3159+105T>C rs2307102 0.05344
NM_001013703.4(EIF2AK4):c.4065+305A>G rs191029859 0.05266
NM_001013703.4(EIF2AK4):c.1553+128C>T rs4566130 0.04698
NM_001013703.4(EIF2AK4):c.2319+290A>G rs3765127 0.04688
NM_001013703.4(EIF2AK4):c.4065+301A>G rs1053134238 0.04420
NM_001013703.4(EIF2AK4):c.4065+263_4065+291del rs1567006779 0.03965
NM_001013703.4(EIF2AK4):c.3357+237T>C rs76182620 0.03814
NM_001013703.4(EIF2AK4):c.4303-50del rs55756820 0.03095
NM_001013703.4(EIF2AK4):c.4302+158A>G rs8040213 0.02918
NM_001013703.4(EIF2AK4):c.3576+151T>C rs113323207 0.02907
NM_001013703.4(EIF2AK4):c.3408-173A>G rs77478759 0.02825
NM_001013703.4(EIF2AK4):c.2320-102G>A rs60196164 0.02736
NM_001013703.4(EIF2AK4):c.3408-107C>T rs59525131 0.02327
NM_001013703.4(EIF2AK4):c.4502+98G>C rs8028714 0.02116
NM_001013703.4(EIF2AK4):c.514-256A>G rs73384385 0.01942
NM_001013703.4(EIF2AK4):c.3159+299G>A rs138413644 0.01939
NM_001013703.4(EIF2AK4):c.2923-167T>C rs75059472 0.01920
NM_001013703.4(EIF2AK4):c.594+204A>G rs80222650 0.01852
NM_001013703.4(EIF2AK4):c.3760-55A>C rs73390625 0.01781
NM_001013703.4(EIF2AK4):c.4065+263_4065+285del rs1567006772 0.01776
NM_001013703.4(EIF2AK4):c.3408-314T>C rs73388602 0.01764
NM_001013703.4(EIF2AK4):c.4502+246A>G rs140036823 0.01571
NC_000015.10:g.39933821G>A rs72729453 0.01564
NM_001013703.4(EIF2AK4):c.2922+145C>G rs77034796 0.01503
NM_001013703.4(EIF2AK4):c.2687-121T>C rs76059747 0.01501
NM_001013703.4(EIF2AK4):c.2868+342C>G rs76727511 0.01500
NM_001013703.4(EIF2AK4):c.4660-48A>G rs113145166 0.01468
NM_001013703.4(EIF2AK4):c.4562-12T>G rs7165452 0.01444
NM_001013703.4(EIF2AK4):c.*95C>T rs115329968 0.01327
NM_001013703.4(EIF2AK4):c.4502+211T>A rs189914001 0.01241
NM_001013703.4(EIF2AK4):c.4562-264G>A rs115785535 0.01058
NM_001013703.4(EIF2AK4):c.2869-269A>G rs16970160 0.00765
NM_001013703.4(EIF2AK4):c.4502+22G>A rs114286755 0.00544
NM_001013703.4(EIF2AK4):c.1553+136G>A rs147823541 0.00543
NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg) rs35480871 0.00518
NM_001013703.4(EIF2AK4):c.4065+263_4065+283del rs1567006771 0.00389
NM_001013703.4(EIF2AK4):c.3147C>T (p.Ser1049=) rs61730023 0.00377
NM_001013703.4(EIF2AK4):c.2320-4T>G rs17848516 0.00210
NM_001013703.4(EIF2AK4):c.4303-9T>G rs3816898 0.00210
NM_001013703.4(EIF2AK4):c.2403+12G>A rs17848517 0.00209
NM_001013703.4(EIF2AK4):c.2662G>C (p.Asp888His) rs17848491 0.00190
NM_001013703.4(EIF2AK4):c.1968C>T (p.Ile656=) rs369621429 0.00147
NM_001013703.4(EIF2AK4):c.4218G>T (p.Gln1406His) rs55721315 0.00043
NM_001013703.4(EIF2AK4):c.1537C>G (p.Gln513Glu) rs200393344 0.00034
NM_001013703.4(EIF2AK4):c.1256A>G (p.Asn419Ser) rs370892103 0.00011
NM_001013703.4(EIF2AK4):c.3694-5G>A rs748280701 0.00006
NM_001013703.4(EIF2AK4):c.1447C>T (p.Arg483Cys) rs1378938398 0.00004
NM_001013703.4(EIF2AK4):c.709G>A (p.Gly237Ser) rs1037570316 0.00002
NM_001013703.4(EIF2AK4):c.1388G>A (p.Arg463Gln) rs1303944472 0.00001
NM_001013703.4(EIF2AK4):c.1017+285A>C rs73388504
NM_001013703.4(EIF2AK4):c.1018-11dup rs33911018
NM_001013703.4(EIF2AK4):c.1018-12_1018-11dup rs33911018
NM_001013703.4(EIF2AK4):c.1553+243G>A rs73388510
NM_001013703.4(EIF2AK4):c.1576_1580del (p.Glu526fs) rs1555417104
NM_001013703.4(EIF2AK4):c.1660+288C>A rs8030640
NM_001013703.4(EIF2AK4):c.2205CGA[5] (p.Asp736_Asp737dup) rs377237751
NM_001013703.4(EIF2AK4):c.2249+287_2249+288insCAAAAA rs200128941
NM_001013703.4(EIF2AK4):c.2249+288T>C rs7169411
NM_001013703.4(EIF2AK4):c.2249+289AAAAAC[4] rs10664232
NM_001013703.4(EIF2AK4):c.2249+66dup rs149792847
NM_001013703.4(EIF2AK4):c.2249+82TTCC[4] rs10649761
NM_001013703.4(EIF2AK4):c.257+301dup rs35994771
NM_001013703.4(EIF2AK4):c.258-11G>T rs59287083
NM_001013703.4(EIF2AK4):c.258-12del rs5812147
NM_001013703.4(EIF2AK4):c.258-13_258-12del rs5812147
NM_001013703.4(EIF2AK4):c.258-14_258-12del rs5812147
NM_001013703.4(EIF2AK4):c.2631+47T>C rs4144472
NM_001013703.4(EIF2AK4):c.2766+183TCCA[12] rs1199022740
NM_001013703.4(EIF2AK4):c.2766+228_2766+247del rs771881242
NM_001013703.4(EIF2AK4):c.2766+228_2766+251del rs749814561
NM_001013703.4(EIF2AK4):c.2766+228_2766+255del rs746192450
NM_001013703.4(EIF2AK4):c.2766+255T>C rs11639359
NM_001013703.4(EIF2AK4):c.2766+290A>G rs11070242
NM_001013703.4(EIF2AK4):c.3054G>C (p.Thr1018=) rs769648944
NM_001013703.4(EIF2AK4):c.3358-13_3358-10del rs143968955
NM_001013703.4(EIF2AK4):c.3577-313C>A rs8034578
NM_001013703.4(EIF2AK4):c.3633dup (p.His1212fs)
NM_001013703.4(EIF2AK4):c.3694-185_3694-181del rs112798106
NM_001013703.4(EIF2AK4):c.4065+261A>T rs4924406
NM_001013703.4(EIF2AK4):c.4174-162del rs57323541
NM_001013703.4(EIF2AK4):c.4303-243_4303-240del rs200365861
NM_001013703.4(EIF2AK4):c.4303-299del rs111639490
NM_001013703.4(EIF2AK4):c.4389+161C>G rs8030856
NM_001013703.4(EIF2AK4):c.4502+210del
NM_001013703.4(EIF2AK4):c.4503-171C>G rs12324776
NM_001013703.4(EIF2AK4):c.4503-256C>A rs3736290
NM_001013703.4(EIF2AK4):c.4562-9T>G
NM_001013703.4(EIF2AK4):c.4729-229G>A rs2291622
NM_001013703.4(EIF2AK4):c.4774-279del rs1161664208
NM_001013703.4(EIF2AK4):c.4893-20TCTTT[2] rs138634589
NM_001013703.4(EIF2AK4):c.560_564del (p.Lys187fs) rs772487425
NM_001013703.4(EIF2AK4):c.743+254_743+255del rs11320320
NM_001013703.4(EIF2AK4):c.743+255del rs11320320

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