ClinVar Miner

List of variants in gene EIF2AK4 reported as benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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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.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.3160-8T>C rs200938635 0.00093
NM_001013703.4(EIF2AK4):c.2205CGA[5] (p.Asp736_Asp737dup) rs377237751
NM_001013703.4(EIF2AK4):c.3358-13_3358-10del rs143968955
NM_001013703.4(EIF2AK4):c.4893-20TCTTT[2] rs138634589

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