ClinVar Miner

List of variants in gene EIF2AK4 reported as likely benign by GeneDx

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001013703.4(EIF2AK4):c.3159+299G>A rs138413644 0.01846
NC_000015.10:g.39933821G>A rs72729453 0.01523
NM_001013703.4(EIF2AK4):c.4660-48A>G rs113145166 0.01468
NM_001013703.4(EIF2AK4):c.*95C>T rs115329968 0.01253
NM_001013703.4(EIF2AK4):c.4502+211T>A rs189914001 0.01241
NM_001013703.4(EIF2AK4):c.4562-264G>A rs115785535 0.01058
NM_001013703.4(EIF2AK4):c.2869-269A>G rs16970160 0.00765
NM_001013703.4(EIF2AK4):c.4502+22G>A rs114286755 0.00539
NM_001013703.4(EIF2AK4):c.1553+136G>A rs147823541 0.00515
NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg) rs35480871 0.00482
NM_001013703.4(EIF2AK4):c.3147C>T (p.Ser1049=) rs61730023 0.00377
NM_001013703.4(EIF2AK4):c.4065+263_4065+283del rs1567006771 0.00365
NM_001013703.4(EIF2AK4):c.2403+12G>A rs17848517 0.00235
NM_001013703.4(EIF2AK4):c.1968C>T (p.Ile656=) rs369621429 0.00147
NM_001013703.4(EIF2AK4):c.4503-171C>G rs12324776 0.00075
NM_001013703.4(EIF2AK4):c.4218G>T (p.Gln1406His) rs55721315 0.00043
NM_001013703.4(EIF2AK4):c.1537C>G (p.Gln513Glu) rs200393344 0.00029
NM_001013703.4(EIF2AK4):c.3694-5G>A rs748280701 0.00004
NM_001013703.4(EIF2AK4):c.3054G>C (p.Thr1018=) rs769648944
NM_001013703.4(EIF2AK4):c.4303-243_4303-240del rs200365861
NM_001013703.4(EIF2AK4):c.4502+210del rs200485080
NM_001013703.4(EIF2AK4):c.4774-279del rs1161664208

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