ClinVar Miner

List of variants in gene EIF2AK3 studied for Wolcott-Rallison syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529 0.22211
NM_004836.7(EIF2AK3):c.-172C>T rs71414432 0.02228
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_004836.6(EIF2AK3):c.-201A>G rs144057685 0.00671
NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=) rs549451772 0.00388
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr) rs145427892 0.00096
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_004836.7(EIF2AK3):c.2014G>A (p.Glu672Lys) rs35226268 0.00071
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) rs147458427 0.00062
NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=) rs55716350 0.00058
NM_004836.7(EIF2AK3):c.402C>T (p.Ser134=) rs377401079 0.00033
NM_004836.7(EIF2AK3):c.1504G>A (p.Asp502Asn) rs141901506 0.00032
NM_004836.7(EIF2AK3):c.103G>C (p.Gly35Arg) rs776456569 0.00019
NM_004836.7(EIF2AK3):c.1173T>C (p.Tyr391=) rs146949180 0.00016
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val) rs766276341 0.00014
NM_004836.7(EIF2AK3):c.530C>T (p.Thr177Ile) rs187776572 0.00012
NM_004836.7(EIF2AK3):c.556T>C (p.Tyr186His) rs200991366 0.00012
NM_004836.7(EIF2AK3):c.13A>G (p.Ile5Val) rs886056419 0.00010
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_004836.7(EIF2AK3):c.1719T>C (p.Asn573=) rs137927384 0.00009
NM_004836.7(EIF2AK3):c.328A>G (p.Thr110Ala) rs139901728 0.00009
NM_004836.7(EIF2AK3):c.-17C>G rs755314163 0.00006
NM_004836.7(EIF2AK3):c.1601T>C (p.Ile534Thr) rs747376208 0.00006
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) rs539891019 0.00006
NM_004836.7(EIF2AK3):c.68T>G (p.Leu23Arg) rs886056418 0.00006
NM_004836.6(EIF2AK3):c.-263T>C rs762232975 0.00005
NM_004836.7(EIF2AK3):c.72G>C (p.Ala24=) rs1052744793 0.00005
NM_004836.7(EIF2AK3):c.857A>G (p.Asn286Ser) rs150474217 0.00005
NM_004836.7(EIF2AK3):c.447G>A (p.Gly149=) rs376595842 0.00004
NM_004836.7(EIF2AK3):c.615C>A (p.Leu205=) rs757760327 0.00004
NM_004836.7(EIF2AK3):c.959T>C (p.Met320Thr) rs1276515547 0.00004
NM_004836.7(EIF2AK3):c.1121T>C (p.Ile374Thr) rs760865789 0.00003
NM_004836.7(EIF2AK3):c.1165+10T>C rs745614562 0.00003
NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=) rs765544171 0.00003
NM_004836.7(EIF2AK3):c.1228A>G (p.Ser410Gly) rs777668213 0.00002
NM_004836.7(EIF2AK3):c.1332G>A (p.Leu444=) rs779731596 0.00002
NM_004836.7(EIF2AK3):c.1370A>G (p.Asp457Gly) rs750810139 0.00002
NM_004836.7(EIF2AK3):c.633+15T>C rs776777727 0.00002
NM_004836.7(EIF2AK3):c.845C>T (p.Thr282Ile) rs765112357 0.00002
NM_004836.7(EIF2AK3):c.913A>G (p.Ile305Val) rs769083965 0.00002
NM_004836.7(EIF2AK3):c.1085C>T (p.Thr362Ile) rs1674857627 0.00001
NM_004836.7(EIF2AK3):c.1307-4T>G rs548802949 0.00001
NM_004836.7(EIF2AK3):c.1310C>A (p.Ser437Tyr) rs200574679 0.00001
NM_004836.7(EIF2AK3):c.1446A>G (p.Leu482=) rs753150455 0.00001
NM_004836.7(EIF2AK3):c.1481C>T (p.Thr494Ile) rs965316271 0.00001
NM_004836.7(EIF2AK3):c.1576G>A (p.Val526Ile) rs1674713665 0.00001
NM_004836.7(EIF2AK3):c.1622G>A (p.Arg541His) rs758957898 0.00001
NM_004836.7(EIF2AK3):c.1883A>G (p.Asn628Ser) rs776579341 0.00001
NM_004836.7(EIF2AK3):c.441A>G (p.Val147=) rs138199678 0.00001
NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=) rs984341375 0.00001
NM_004836.7(EIF2AK3):c.737G>A (p.Arg246Lys) rs775353963 0.00001
NM_004836.7(EIF2AK3):c.786C>A (p.Gly262=) rs375371096 0.00001
NM_004836.7(EIF2AK3):c.906A>C (p.Glu302Asp) rs549674310 0.00001
NM_004836.6(EIF2AK3):c.-195G>T rs886056421
NM_004836.7(EIF2AK3):c.-10C>T rs1291618208
NM_004836.7(EIF2AK3):c.-162G>A rs886056420
NM_004836.7(EIF2AK3):c.1002+1G>C
NM_004836.7(EIF2AK3):c.1002+2T>C
NM_004836.7(EIF2AK3):c.101G>A (p.Arg34His) rs1675887917
NM_004836.7(EIF2AK3):c.1035dup (p.Lys346Ter) rs869025178
NM_004836.7(EIF2AK3):c.1091ATG[2] (p.Asp366del) rs747505731
NM_004836.7(EIF2AK3):c.1092T>A (p.Asn364Lys) rs886056417
NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter) rs864621972
NM_004836.7(EIF2AK3):c.1265C>T (p.Ala422Val) rs947983532
NM_004836.7(EIF2AK3):c.12del (p.Ile5fs) rs2103993244
NM_004836.7(EIF2AK3):c.1306+1G>A
NM_004836.7(EIF2AK3):c.1306+1G>C
NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs) rs1674719462
NM_004836.7(EIF2AK3):c.1563G>A (p.Trp521Ter)
NM_004836.7(EIF2AK3):c.1564_1565del (p.Trp522fs) rs797045558
NM_004836.7(EIF2AK3):c.1570_1573del (p.Lys523_Glu524insTer) rs1558652941
NM_004836.7(EIF2AK3):c.1578dup (p.Ala527fs)
NM_004836.7(EIF2AK3):c.1726A>C (p.Ser576Arg) rs1674645367
NM_004836.7(EIF2AK3):c.1763G>A (p.Arg588Gln) rs121908569
NM_004836.7(EIF2AK3):c.1764-2A>G rs1674549393
NM_004836.7(EIF2AK3):c.1873C>G (p.Arg625Gly) rs770192517
NM_004836.7(EIF2AK3):c.1886+2T>C
NM_004836.7(EIF2AK3):c.1891T>G (p.Leu631Val) rs540704378
NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp)
NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)
NM_004836.7(EIF2AK3):c.1936_1958del (p.Leu646fs) rs2104414335
NM_004836.7(EIF2AK3):c.212C>T (p.Thr71Ile) rs1675883639
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del) rs1805190
NM_004836.7(EIF2AK3):c.439del
NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His) rs1003629254
NM_004836.7(EIF2AK3):c.511A>G (p.Met171Val) rs1425626815
NM_004836.7(EIF2AK3):c.53T>G (p.Leu18Arg) rs1045275032
NM_004836.7(EIF2AK3):c.598C>T (p.Leu200=) rs1674997611
NM_004836.7(EIF2AK3):c.598_599del (p.Leu200fs)
NM_004836.7(EIF2AK3):c.641A>G (p.Tyr214Cys) rs1327996297
NM_004836.7(EIF2AK3):c.672G>A (p.Trp224Ter)
NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val) rs529920914
NM_004836.7(EIF2AK3):c.994G>T (p.Glu332Ter) rs121908570

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