ClinVar Miner

List of variants in gene EIF2AK4 reported by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001013703.4(EIF2AK4):c.3406C>T (p.Arg1136Ter) rs587777105 0.00003
NM_001013703.4(EIF2AK4):c.3766C>T (p.Arg1256Ter) rs587777207 0.00002
NM_001013703.4(EIF2AK4):c.3448C>T (p.Arg1150Ter) rs587777208 0.00001
NM_001013703.4(EIF2AK4):c.1153dup (p.Val385fs) rs775819448
NM_001013703.4(EIF2AK4):c.1387C>T (p.Arg463Ter) rs587777107
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs) rs587777102
NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln) rs587777106
NM_001013703.4(EIF2AK4):c.3802C>T (p.Gln1268Ter) rs587777103
NM_001013703.4(EIF2AK4):c.567dup (p.Lys190fs) rs587777104
NM_001013703.4(EIF2AK4):c.860-1G>A rs886037661

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