ClinVar Miner

List of variants in gene EIF2AK4 studied for cardiovascular disorder

Included ClinVar conditions (1435):
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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
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.1667A>G (p.Glu556Gly) rs2307105 0.91697
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.2249+7G>A rs34298786 0.34203
NM_001013703.4(EIF2AK4):c.*16G>A rs2898985 0.17137
NM_001013703.4(EIF2AK4):c.1321A>C (p.Ile441Leu) rs2291627 0.14091
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.4562-12T>G rs7165452 0.01444
NM_001013703.4(EIF2AK4):c.2058G>A (p.Pro686=) rs183711630 0.00626
NM_001013703.4(EIF2AK4):c.1660+12A>T rs55851223 0.00580
NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg) rs35480871 0.00518
NM_001013703.4(EIF2AK4):c.2020C>T (p.Pro674Ser) rs201342617 0.00354
NM_001013703.4(EIF2AK4):c.3159+12C>A rs2307103 0.00245
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.2394A>G (p.Leu798=) rs186026165 0.00134
NM_001013703.4(EIF2AK4):c.3129C>T (p.Ile1043=) rs148332808 0.00093
NM_001013703.4(EIF2AK4):c.3160-8T>C rs200938635 0.00093
NM_001013703.4(EIF2AK4):c.4851A>G (p.Lys1617=) rs144332775 0.00068
NM_001013703.4(EIF2AK4):c.744-11T>G rs201918333 0.00050
NM_001013703.4(EIF2AK4):c.3123T>G (p.Pro1041=) rs55727287 0.00048
NM_001013703.4(EIF2AK4):c.1694T>C (p.Ile565Thr) rs541667530 0.00019
NM_001013703.4(EIF2AK4):c.420C>T (p.Pro140=) rs11543185 0.00007
NM_001013703.4(EIF2AK4):c.257+4A>C rs371276330 0.00004
NM_001013703.4(EIF2AK4):c.3406C>T (p.Arg1136Ter) rs587777105 0.00003
NM_001013703.4(EIF2AK4):c.3344C>T (p.Pro1115Leu) rs774906916 0.00002
NM_001013703.4(EIF2AK4):c.3766C>T (p.Arg1256Ter) rs587777207 0.00002
NM_001013703.4(EIF2AK4):c.1078C>T (p.Arg360Cys) rs750055012 0.00001
NM_001013703.4(EIF2AK4):c.1928T>G (p.Leu643Arg) rs757852728 0.00001
NM_001013703.4(EIF2AK4):c.2136_2139dup (p.Ser714fs) rs751247185 0.00001
NM_001013703.4(EIF2AK4):c.3307C>T (p.Leu1103=) rs778131744 0.00001
NM_001013703.4(EIF2AK4):c.3325G>A (p.Gly1109Arg) rs771359303 0.00001
NM_001013703.4(EIF2AK4):c.3448C>T (p.Arg1150Ter) rs587777208 0.00001
NM_001013703.4(EIF2AK4):c.4806T>G (p.Thr1602=) rs1268708595 0.00001
NM_001013703.4(EIF2AK4):c.4892+12C>T rs371027516 0.00001
NM_001013703.4(EIF2AK4):c.745C>T (p.Arg249Ter) rs202140402 0.00001
NM_001013703.4(EIF2AK4):c.1153dup (p.Val385fs) rs775819448
NM_001013703.4(EIF2AK4):c.1159_1160del (p.Leu387fs) rs1595552181
NM_001013703.4(EIF2AK4):c.1243del (p.Tyr415fs)
NM_001013703.4(EIF2AK4):c.1387C>T (p.Arg463Ter) rs587777107
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs) rs587777102
NM_001013703.4(EIF2AK4):c.1424C>T (p.Thr475Met)
NM_001013703.4(EIF2AK4):c.145-2A>G rs1595539403
NM_001013703.4(EIF2AK4):c.1554-4C>A rs376877634
NM_001013703.4(EIF2AK4):c.1739dup (p.Arg581fs) rs1595402535
NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln) rs587777106
NM_001013703.4(EIF2AK4):c.1769T>G (p.Phe590Cys)
NM_001013703.4(EIF2AK4):c.1795G>C (p.Gly599Arg) rs1291600097
NM_001013703.4(EIF2AK4):c.1820T>G (p.Val607Gly) rs1595403854
NM_001013703.4(EIF2AK4):c.2025G>A (p.Leu675=) rs1237677524
NM_001013703.4(EIF2AK4):c.2205CGA[5] (p.Asp736_Asp737dup) rs377237751
NM_001013703.4(EIF2AK4):c.2249+15C>A rs367692390
NM_001013703.4(EIF2AK4):c.2309del (p.Ser770fs)
NM_001013703.4(EIF2AK4):c.2319+1G>A rs1085307441
NM_001013703.4(EIF2AK4):c.2458C>T (p.Arg820Ter) rs774163084
NM_001013703.4(EIF2AK4):c.2727C>G (p.Ser909Arg) rs1595414835
NM_001013703.4(EIF2AK4):c.281dup (p.Asn94fs) rs1595541066
NM_001013703.4(EIF2AK4):c.2841del (p.Ile948fs) rs1595418005
NM_001013703.4(EIF2AK4):c.2857C>T (p.Gln953Ter) rs759101551
NM_001013703.4(EIF2AK4):c.301G>T (p.Glu101Ter)
NM_001013703.4(EIF2AK4):c.3055_3064del (p.Leu1019fs) rs767131900
NM_001013703.4(EIF2AK4):c.3097C>T (p.Gln1033Ter) rs760842663
NM_001013703.4(EIF2AK4):c.3159G>A (p.Lys1053=) rs1085307442
NM_001013703.4(EIF2AK4):c.3244C>T (p.Gln1082Ter) rs1085307443
NM_001013703.4(EIF2AK4):c.3358-13_3358-10del rs143968955
NM_001013703.4(EIF2AK4):c.3378G>A (p.Val1126=)
NM_001013703.4(EIF2AK4):c.354_355del (p.Cys118fs) rs1085307439
NM_001013703.4(EIF2AK4):c.3576+1G>T rs756902589
NM_001013703.4(EIF2AK4):c.3605A>T (p.His1202Leu) rs1159906680
NM_001013703.4(EIF2AK4):c.3802C>T (p.Gln1268Ter) rs587777103
NM_001013703.4(EIF2AK4):c.3884T>G (p.Leu1295Arg) rs1595431276
NM_001013703.4(EIF2AK4):c.4065+1G>C rs776140816
NM_001013703.4(EIF2AK4):c.4065+1G>T rs776140816
NM_001013703.4(EIF2AK4):c.4205dup (p.Ser1403fs) rs1085307444
NM_001013703.4(EIF2AK4):c.4392dup (p.Lys1465Ter) rs1181863323
NM_001013703.4(EIF2AK4):c.4400dup (p.Glu1468fs) rs1595437286
NM_001013703.4(EIF2AK4):c.4418_4421del (p.Thr1473fs) rs745339673
NM_001013703.4(EIF2AK4):c.4593del (p.Ile1533fs) rs1327297003
NM_001013703.4(EIF2AK4):c.4728+1_4728+13delinsTTCT rs1085307445
NM_001013703.4(EIF2AK4):c.4769del (p.Ser1589_Leu1590insTer) rs756315327
NM_001013703.4(EIF2AK4):c.4893-20TCTTT[2] rs138634589
NM_001013703.4(EIF2AK4):c.4901_4902del (p.Val1634fs) rs2035596973
NM_001013703.4(EIF2AK4):c.560_564del (p.Lys187fs) rs772487425
NM_001013703.4(EIF2AK4):c.567dup (p.Lys190fs) rs587777104
NM_001013703.4(EIF2AK4):c.744-12T>A
NM_001013703.4(EIF2AK4):c.860-1G>A rs886037661
NM_001013703.4(EIF2AK4):c.983A>C (p.Gln328Pro)

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