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Variants search result for Homo sapiens
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12 records found for search term Eif2s2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15180892CV742354single nucleotide variantNM_003908.5(EIF2S2):c.132G>C (p.Val44=)not provided [RCV000907461]likely benign203410542934105429Humanname
598179057CV3961342single nucleotide variantNM_003908.5(EIF2S2):c.36G>A (p.Met12Ile)not specified [RCV005332444]uncertain significance203410552534105525Humanname
15111286CV757463single nucleotide variantNM_003908.5(EIF2S2):c.987T>C (p.Arg329=)not provided [RCV000916702]likely benign203408974534089745Humanname
15150776CV757464single nucleotide variantNM_003908.5(EIF2S2):c.528C>T (p.Tyr176=)not provided [RCV000923540]benign203409742234097422Humanname
598179044CV3961340single nucleotide variantNM_003908.5(EIF2S2):c.158A>G (p.Asp53Gly)not specified [RCV005332442]uncertain significance203410540334105403Humanname
156255664CV2229318single nucleotide variantNM_003908.5(EIF2S2):c.582G>C (p.Met194Ile)not specified [RCV004101112]uncertain significance203409675834096758Humanname
156249126CV2264067single nucleotide variantNM_003908.5(EIF2S2):c.985C>T (p.Arg329Cys)not specified [RCV004138078]uncertain significance203408974734089747Humanname
407498851CV3438108single nucleotide variantNM_003908.5(EIF2S2):c.481A>C (p.Asn161His)not specified [RCV004622595]uncertain significance203409746934097469Humanname
597746571CV3674416single nucleotide variantNM_003908.5(EIF2S2):c.336A>C (p.Glu112Asp)not specified [RCV004922721]uncertain significance203409859534098595Humanname
597746577CV3674417single nucleotide variantNM_003908.5(EIF2S2):c.414A>C (p.Glu138Asp)not specified [RCV004922722]uncertain significance203409851734098517Humanname
597746583CV3674418single nucleotide variantNM_003908.5(EIF2S2):c.545G>A (p.Arg182Gln)not specified [RCV004922723]uncertain significance203409679534096795Humanname
598179051CV3961341single nucleotide variantNM_003908.5(EIF2S2):c.554A>G (p.Asn185Ser)not specified [RCV005332443]uncertain significance203409678634096786Humanname