ClinVar Miner

List of variants in gene EIF2AK3, LOC101928371 studied for Wolcott-Rallison syndrome

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_004836.6(EIF2AK3):c.*1007C>G rs33957402 0.29006
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=) rs10208681 0.00543
NM_004836.7(EIF2AK3):c.*635G>A rs180734302 0.00131
NM_004836.7(EIF2AK3):c.*363_*364del rs533135276 0.00041
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=) rs56094918 0.00039
NM_004836.7(EIF2AK3):c.*271T>G rs886056414 0.00013
NM_004836.7(EIF2AK3):c.*360C>T rs551581209 0.00012
NM_004836.7(EIF2AK3):c.2286G>T (p.Gln762His) rs777171158 0.00012
NM_004836.7(EIF2AK3):c.*356A>G rs974625421 0.00011
NM_004836.7(EIF2AK3):c.2987T>G (p.Ile996Ser) rs148953825 0.00010
NM_004836.7(EIF2AK3):c.*99C>T rs771892864 0.00006
NM_004836.7(EIF2AK3):c.2162C>A (p.Ser721Tyr) rs947040918 0.00004
NM_004836.7(EIF2AK3):c.2315A>T (p.Glu772Val) rs778904290 0.00004
NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr) rs201662849 0.00002
NM_004836.7(EIF2AK3):c.2500G>A (p.Ala834Thr) rs751296708 0.00002
NM_004836.7(EIF2AK3):c.2507A>T (p.Lys836Ile) rs200270016 0.00002
NM_004836.7(EIF2AK3):c.*712C>T rs1415152930 0.00001
NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg) rs771612567 0.00001
NM_004836.7(EIF2AK3):c.2073T>C (p.Asp691=) rs747687191 0.00001
NM_004836.7(EIF2AK3):c.2093G>A (p.Arg698His) rs780592115 0.00001
NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala) rs781754103 0.00001
NM_004836.7(EIF2AK3):c.2467A>G (p.Lys823Glu) rs374540128 0.00001
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter) rs1178109063 0.00001
NM_004836.7(EIF2AK3):c.2710T>C (p.Cys904Arg) rs752726105 0.00001
NM_004836.7(EIF2AK3):c.2923A>G (p.Met975Val) rs759906972 0.00001
NM_004836.7(EIF2AK3):c.2935G>A (p.Ala979Thr) rs766524866 0.00001
NM_004836.7(EIF2AK3):c.3287G>A (p.Ser1096Asn) rs762080456 0.00001
NM_004836.7(EIF2AK3):c.*104A>C rs1474906844
NM_004836.7(EIF2AK3):c.*175A>T rs886056415
NM_004836.7(EIF2AK3):c.*286G>C rs886056413
NM_004836.7(EIF2AK3):c.*300TA[7] rs767645334
NM_004836.7(EIF2AK3):c.*340A>G rs1376568962
NM_004836.7(EIF2AK3):c.*408T>G rs148457589
NM_004836.7(EIF2AK3):c.*459G>T rs886056412
NM_004836.7(EIF2AK3):c.*864ATGTTT[1] rs565147927
NM_004836.7(EIF2AK3):c.*894AATC[1] rs886056411
NM_004836.7(EIF2AK3):c.2092C>A (p.Arg698Ser) rs189064501
NM_004836.7(EIF2AK3):c.2092C>T (p.Arg698Cys) rs189064501
NM_004836.7(EIF2AK3):c.2125del (p.Ile709fs)
NM_004836.7(EIF2AK3):c.2128G>T (p.Glu710Ter)
NM_004836.7(EIF2AK3):c.2135T>C (p.Ile712Thr) rs760433148
NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys) rs2104411903
NM_004836.7(EIF2AK3):c.2483A>G (p.His828Arg) rs369837691
NM_004836.7(EIF2AK3):c.2539TCT[2] (p.Ser849del) rs758593623
NM_004836.7(EIF2AK3):c.2588del (p.Thr862_Leu863insTer)
NM_004836.7(EIF2AK3):c.2729_2732del (p.Glu910fs)
NM_004836.7(EIF2AK3):c.2736C>T (p.Ser912=) rs886056416
NM_004836.7(EIF2AK3):c.2758C>T (p.Gln920Ter) rs1553407942
NM_004836.7(EIF2AK3):c.2801T>G (p.Met934Arg) rs1674406193
NM_004836.7(EIF2AK3):c.2890C>T (p.Gln964Ter)
NM_004836.7(EIF2AK3):c.2969A>G (p.Tyr990Cys)
NM_004836.7(EIF2AK3):c.2985+1G>A rs869025179
NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs) rs2104387177
NM_004836.7(EIF2AK3):c.3088-1G>C
NM_004836.7(EIF2AK3):c.3095C>G (p.Thr1032Ser) rs755369984
NM_004836.7(EIF2AK3):c.3100G>A (p.Val1034Ile)
NM_004836.7(EIF2AK3):c.3222T>A (p.Asn1074Lys) rs1441763585
NM_004836.7(EIF2AK3):c.3293C>A (p.Ser1098Ter)

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