ClinVar Miner

List of variants in gene EIF2AK3 reported as uncertain significance by Personalized Diabetes Medicine Program, University of Maryland School of Medicine

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val) rs766276341 0.00014
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_004836.7(EIF2AK3):c.833T>A (p.Phe278Tyr) rs756231274 0.00001
NM_004836.7(EIF2AK3):c.440T>G (p.Val147Gly) rs1057524886

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