ClinVar Miner

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

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
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.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.744-11T>G rs201918333 0.00050
NM_001013703.4(EIF2AK4):c.3123T>G (p.Pro1041=) rs55727287 0.00048
NM_001013703.4(EIF2AK4):c.420C>T (p.Pro140=) rs11543185 0.00007
NM_001013703.4(EIF2AK4):c.3307C>T (p.Leu1103=) rs778131744 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.2025G>A (p.Leu675=) rs1237677524
NM_001013703.4(EIF2AK4):c.2249+15C>A rs367692390
NM_001013703.4(EIF2AK4):c.3378G>A (p.Val1126=)

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