ClinVar Miner

List of variants in gene combination EIF2B4, GTF3C2 reported as uncertain significance for not provided

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001034116.2(EIF2B4):c.961C>T (p.Arg321Cys) rs200954953 0.00010
NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys) rs113994035 0.00007
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_001034116.2(EIF2B4):c.880G>A (p.Glu294Lys) rs763088766 0.00004
NM_001034116.2(EIF2B4):c.1438G>A (p.Ala480Thr) rs145784671 0.00003
NM_001034116.2(EIF2B4):c.1339G>A (p.Val447Met) rs746154598 0.00002
NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln) rs751555693 0.00002
NM_001034116.2(EIF2B4):c.902G>A (p.Arg301Gln) rs781536399 0.00002
NM_001034116.2(EIF2B4):c.1052C>T (p.Thr351Ile) rs779707712 0.00001
NM_001034116.2(EIF2B4):c.1191+2T>C rs751867352 0.00001
NM_001034116.2(EIF2B4):c.1201G>A (p.Val401Met) rs780149885 0.00001
NM_001034116.2(EIF2B4):c.1448G>A (p.Arg483Gln) rs776097463 0.00001
NM_001034116.2(EIF2B4):c.955A>G (p.Ile319Val) rs769371305 0.00001
NM_001034116.2(EIF2B4):c.1060C>T (p.Arg354Trp)
NM_001034116.2(EIF2B4):c.1061G>A (p.Arg354Gln)
NM_001034116.2(EIF2B4):c.1069C>T (p.Arg357Trp)
NM_001034116.2(EIF2B4):c.1072G>T (p.Val358Leu)
NM_001034116.2(EIF2B4):c.1098G>T (p.Trp366Cys) rs2148373119
NM_001034116.2(EIF2B4):c.1165C>G (p.Pro389Ala)
NM_001034116.2(EIF2B4):c.1180G>A (p.Val394Met)
NM_001034116.2(EIF2B4):c.1249C>T (p.Arg417Trp) rs759071387
NM_001034116.2(EIF2B4):c.1298C>T (p.Pro433Leu)
NM_001034116.2(EIF2B4):c.1310G>T (p.Cys437Phe) rs886055900
NM_001034116.2(EIF2B4):c.1322A>G (p.Tyr441Cys) rs1433783398
NM_001034116.2(EIF2B4):c.1337G>A (p.Arg446His)
NM_001034116.2(EIF2B4):c.1344G>T (p.Gln448His)
NM_001034116.2(EIF2B4):c.1365T>A (p.Asn455Lys) rs1558632613
NM_001034116.2(EIF2B4):c.1412T>A (p.Val471Asp)
NM_001034116.2(EIF2B4):c.1457A>G (p.Asn486Ser)
NM_001034116.2(EIF2B4):c.1480C>T (p.Pro494Ser)
NM_001034116.2(EIF2B4):c.1561delinsTC (p.Ser521_Asp522insTer)
NM_001034116.2(EIF2B4):c.1567C>T (p.Gln523Ter)
NM_001034116.2(EIF2B4):c.706-3T>C
NM_001034116.2(EIF2B4):c.825C>A (p.Asn275Lys) rs149782530
NM_001034116.2(EIF2B4):c.826G>A (p.Ala276Thr) rs1308215203
NM_001034116.2(EIF2B4):c.829A>T (p.Ile277Phe)
NM_001034116.2(EIF2B4):c.887C>T (p.Ala296Val)
NM_001034116.2(EIF2B4):c.902G>C (p.Arg301Pro)
NM_001034116.2(EIF2B4):c.904G>A (p.Ala302Thr) rs1681924715

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