ClinVar Miner

List of variants studied for Wolcott-Rallison syndrome

Included ClinVar conditions (1):
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Total variants: 58
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HGVS dbSNP
NM_004836.6(EIF2AK3):c.*1007C>G rs33957402
NM_004836.6(EIF2AK3):c.*175A>T rs886056415
NM_004836.6(EIF2AK3):c.*271T>G rs886056414
NM_004836.6(EIF2AK3):c.*286G>C rs886056413
NM_004836.6(EIF2AK3):c.*310_*311dup rs767645334
NM_004836.6(EIF2AK3):c.*360C>T rs551581209
NM_004836.6(EIF2AK3):c.*363_*364del rs533135276
NM_004836.6(EIF2AK3):c.*459G>T rs886056412
NM_004836.6(EIF2AK3):c.*635G>A rs180734302
NM_004836.6(EIF2AK3):c.*870_*875del rs565147927
NM_004836.6(EIF2AK3):c.*898_*901del rs886056411
NM_004836.6(EIF2AK3):c.-162G>A rs886056420
NM_004836.6(EIF2AK3):c.-172C>T rs71414432
NM_004836.6(EIF2AK3):c.-17C>G rs755314163
NM_004836.6(EIF2AK3):c.-195G>T rs886056421
NM_004836.6(EIF2AK3):c.-201A>G rs144057685
NM_004836.6(EIF2AK3):c.-263T>C rs762232975
NM_004836.6(EIF2AK3):c.1092T>A (p.Asn364Lys) rs886056417
NM_004836.6(EIF2AK3):c.1165+10T>C rs745614562
NM_004836.6(EIF2AK3):c.1173T>C (p.Tyr391=) rs146949180
NM_004836.6(EIF2AK3):c.1192C>T (p.Gln398Ter) rs864621972
NM_004836.6(EIF2AK3):c.1307-4T>G rs548802949
NM_004836.6(EIF2AK3):c.1332G>A (p.Leu444=) rs779731596
NM_004836.6(EIF2AK3):c.13A>G (p.Ile5Val) rs886056419
NM_004836.6(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811
NM_004836.6(EIF2AK3):c.1564_1565del (p.Trp522Glufs) rs797045558
NM_004836.6(EIF2AK3):c.1570_1573del (p.Glu524Terfs)
NM_004836.6(EIF2AK3):c.1601T>C (p.Ile534Thr) rs747376208
NM_004836.6(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823
NM_004836.6(EIF2AK3):c.1719T>C (p.Asn573=) rs137927384
NM_004836.6(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450
NM_004836.6(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605
NM_004836.6(EIF2AK3):c.1763+6A>T rs6750998
NM_004836.6(EIF2AK3):c.1763G>A (p.Arg588Gln) rs121908569
NM_004836.6(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164
NM_004836.6(EIF2AK3):c.2014G>A (p.Glu672Lys) rs35226268
NM_004836.6(EIF2AK3):c.2064C>A (p.Ser688Arg) rs771612567
NM_004836.6(EIF2AK3):c.2073T>C (p.Asp691=) rs747687191
NM_004836.6(EIF2AK3):c.2092C>A (p.Arg698Ser) rs189064501
NM_004836.6(EIF2AK3):c.2093G>A (p.Arg698His) rs780592115
NM_004836.6(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165
NM_004836.6(EIF2AK3):c.2135T>C (p.Ile712Thr) rs760433148
NM_004836.6(EIF2AK3):c.2237T>C (p.Met746Thr) rs201662849
NM_004836.6(EIF2AK3):c.2500G>A (p.Ala834Thr) rs751296708
NM_004836.6(EIF2AK3):c.2507A>T (p.Lys836Ile) rs200270016
NM_004836.6(EIF2AK3):c.2532T>C (p.Ser844=) rs56094918
NM_004836.6(EIF2AK3):c.2736C>T (p.Ser912=) rs886056416
NM_004836.6(EIF2AK3):c.2758C>T (p.Gln920Ter) rs1553407942
NM_004836.6(EIF2AK3):c.2985+1G>A rs869025179
NM_004836.6(EIF2AK3):c.3291A>G (p.Ser1097=) rs10208681
NM_004836.6(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529
NM_004836.6(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045
NM_004836.6(EIF2AK3):c.503G>A (p.Arg168His) rs1003629254
NM_004836.6(EIF2AK3):c.61_63del (p.Leu21del) rs1805190
NM_004836.6(EIF2AK3):c.68T>G (p.Leu23Arg) rs886056418
NM_004836.6(EIF2AK3):c.719G>A (p.Arg240His) rs147458427
NM_004836.6(EIF2AK3):c.994G>T (p.Glu332Ter) rs121908570
NM_004836.7(EIF2AK3):c.1035dup (p.Lys346Terfs) rs869025178

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