ClinVar Miner

List of variants in gene EIF2S3 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.50815
NM_001415.4(EIF2S3):c.1266C>T (p.Ala422=) rs11548543 0.01884
NM_001415.4(EIF2S3):c.123A>G (p.Thr41=) rs56229020 0.00191
NM_001415.4(EIF2S3):c.133+8T>C rs377239918 0.00060
NM_001415.4(EIF2S3):c.280C>A (p.Pro94Thr) rs761305657
NM_001415.4(EIF2S3):c.374A>G (p.Lys125Arg) rs16997659

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