ClinVar Miner

List of variants in gene EIF2AK3 reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=) rs549451772 0.00388
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) rs147458427 0.00062
NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=) rs55716350 0.00058
NM_004836.7(EIF2AK3):c.402C>T (p.Ser134=) rs377401079 0.00033
NM_004836.7(EIF2AK3):c.103G>C (p.Gly35Arg) rs776456569 0.00019
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val) rs766276341 0.00014
NM_004836.7(EIF2AK3):c.530C>T (p.Thr177Ile) rs187776572 0.00012
NM_004836.7(EIF2AK3):c.556T>C (p.Tyr186His) rs200991366 0.00012
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_004836.7(EIF2AK3):c.328A>G (p.Thr110Ala) rs139901728 0.00009
NM_004836.7(EIF2AK3):c.1601T>C (p.Ile534Thr) rs747376208 0.00006
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) rs539891019 0.00006
NM_004836.7(EIF2AK3):c.72G>C (p.Ala24=) rs1052744793 0.00005
NM_004836.7(EIF2AK3):c.857A>G (p.Asn286Ser) rs150474217 0.00005
NM_004836.7(EIF2AK3):c.447G>A (p.Gly149=) rs376595842 0.00004
NM_004836.7(EIF2AK3):c.615C>A (p.Leu205=) rs757760327 0.00004
NM_004836.7(EIF2AK3):c.959T>C (p.Met320Thr) rs1276515547 0.00004
NM_004836.7(EIF2AK3):c.1121T>C (p.Ile374Thr) rs760865789 0.00003
NM_004836.7(EIF2AK3):c.1228A>G (p.Ser410Gly) rs777668213 0.00002
NM_004836.7(EIF2AK3):c.1370A>G (p.Asp457Gly) rs750810139 0.00002
NM_004836.7(EIF2AK3):c.633+15T>C rs776777727 0.00002
NM_004836.7(EIF2AK3):c.845C>T (p.Thr282Ile) rs765112357 0.00002
NM_004836.7(EIF2AK3):c.913A>G (p.Ile305Val) rs769083965 0.00002
NM_004836.7(EIF2AK3):c.1310C>A (p.Ser437Tyr) rs200574679 0.00001
NM_004836.7(EIF2AK3):c.1446A>G (p.Leu482=) rs753150455 0.00001
NM_004836.7(EIF2AK3):c.1481C>T (p.Thr494Ile) rs965316271 0.00001
NM_004836.7(EIF2AK3):c.1576G>A (p.Val526Ile) rs1674713665 0.00001
NM_004836.7(EIF2AK3):c.1622G>A (p.Arg541His) rs758957898 0.00001
NM_004836.7(EIF2AK3):c.1883A>G (p.Asn628Ser) rs776579341 0.00001
NM_004836.7(EIF2AK3):c.441A>G (p.Val147=) rs138199678 0.00001
NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=) rs984341375 0.00001
NM_004836.7(EIF2AK3):c.906A>C (p.Glu302Asp) rs549674310 0.00001
NM_004836.7(EIF2AK3):c.1091ATG[2] (p.Asp366del) rs747505731
NM_004836.7(EIF2AK3):c.1265C>T (p.Ala422Val) rs947983532
NM_004836.7(EIF2AK3):c.1873C>G (p.Arg625Gly) rs770192517
NM_004836.7(EIF2AK3):c.1891T>G (p.Leu631Val) rs540704378
NM_004836.7(EIF2AK3):c.1936_1958del (p.Leu646fs) rs2104414335
NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His) rs1003629254
NM_004836.7(EIF2AK3):c.511A>G (p.Met171Val) rs1425626815
NM_004836.7(EIF2AK3):c.598C>T (p.Leu200=) rs1674997611
NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val) rs529920914

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