ClinVar Miner

List of variants in gene EIF2AK2 reported as likely benign for not provided

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001135651.3(EIF2AK2):c.135T>C (p.Val45=) rs141047420 0.00033
NM_001135651.3(EIF2AK2):c.891T>C (p.Arg297=) rs779362072 0.00003
NM_001135651.3(EIF2AK2):c.120-18T>C rs202113442 0.00001
NM_001135651.3(EIF2AK2):c.1068-11T>C
NM_001135651.3(EIF2AK2):c.1068-5C>A
NM_001135651.3(EIF2AK2):c.119+13A>G
NM_001135651.3(EIF2AK2):c.120-6A>G
NM_001135651.3(EIF2AK2):c.1248+17C>A
NM_001135651.3(EIF2AK2):c.1248+17_1248+21del
NM_001135651.3(EIF2AK2):c.1249-16T>A
NM_001135651.3(EIF2AK2):c.1249-6del
NM_001135651.3(EIF2AK2):c.126A>G (p.Thr42=)
NM_001135651.3(EIF2AK2):c.1279C>G (p.Gln427Glu)
NM_001135651.3(EIF2AK2):c.1286del (p.Lys429fs)
NM_001135651.3(EIF2AK2):c.1378-10G>A
NM_001135651.3(EIF2AK2):c.1386G>A (p.Ser462=)
NM_001135651.3(EIF2AK2):c.1479+16A>G
NM_001135651.3(EIF2AK2):c.1480-5T>C
NM_001135651.3(EIF2AK2):c.1480-5del
NM_001135651.3(EIF2AK2):c.150A>G (p.Arg50=)
NM_001135651.3(EIF2AK2):c.1534-14C>T
NM_001135651.3(EIF2AK2):c.1542T>C (p.Leu514=)
NM_001135651.3(EIF2AK2):c.1597C>G (p.Leu533Val)
NM_001135651.3(EIF2AK2):c.1605C>T (p.Thr535=)
NM_001135651.3(EIF2AK2):c.168A>G (p.Glu56=)
NM_001135651.3(EIF2AK2):c.198C>T (p.Ala66=)
NM_001135651.3(EIF2AK2):c.228T>C (p.Asn76=)
NM_001135651.3(EIF2AK2):c.240+20C>T
NM_001135651.3(EIF2AK2):c.255A>G (p.Leu85=)
NM_001135651.3(EIF2AK2):c.269C>T (p.Thr90Met)
NM_001135651.3(EIF2AK2):c.270G>A (p.Thr90=)
NM_001135651.3(EIF2AK2):c.297G>T (p.Gly99=)
NM_001135651.3(EIF2AK2):c.373G>T (p.Val125Leu)
NM_001135651.3(EIF2AK2):c.459A>C (p.Ala153=)
NM_001135651.3(EIF2AK2):c.471C>T (p.Ala157=)
NM_001135651.3(EIF2AK2):c.483A>G (p.Ala161=)
NM_001135651.3(EIF2AK2):c.501A>G (p.Ser167=)
NM_001135651.3(EIF2AK2):c.585C>G (p.Thr195=)
NM_001135651.3(EIF2AK2):c.593+18A>G
NM_001135651.3(EIF2AK2):c.594-12C>G
NM_001135651.3(EIF2AK2):c.597T>C (p.Ala199=)
NM_001135651.3(EIF2AK2):c.678G>A (p.Ser226=)
NM_001135651.3(EIF2AK2):c.681G>A (p.Leu227=)
NM_001135651.3(EIF2AK2):c.687+16C>G
NM_001135651.3(EIF2AK2):c.688-13T>A
NM_001135651.3(EIF2AK2):c.722+10A>T
NM_001135651.3(EIF2AK2):c.723-14C>T
NM_001135651.3(EIF2AK2):c.786-14T>G
NM_001135651.3(EIF2AK2):c.786-19A>C
NM_001135651.3(EIF2AK2):c.816A>G (p.Leu272=)
NM_001135651.3(EIF2AK2):c.885T>A (p.Ile295=)
NM_001135651.3(EIF2AK2):c.908+17T>C
NM_001135651.3(EIF2AK2):c.915G>A (p.Ala305=)
NM_001135651.3(EIF2AK2):c.956A>G (p.Asn319Ser)
NM_001135651.3(EIF2AK2):c.971A>G (p.Asn324Ser) rs1674595991

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