ClinVar Miner

List of variants in gene combination EIF2AK3, LOC101928371 reported as uncertain significance for Wolcott-Rallison syndrome

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP
NM_004836.7(EIF2AK3):c.*175A>T rs886056415
NM_004836.7(EIF2AK3):c.*271T>G rs886056414
NM_004836.7(EIF2AK3):c.*286G>C rs886056413
NM_004836.7(EIF2AK3):c.*300_*301TA[7] rs767645334
NM_004836.7(EIF2AK3):c.*360C>T rs551581209
NM_004836.7(EIF2AK3):c.*363_*364del rs533135276
NM_004836.7(EIF2AK3):c.*459G>T rs886056412
NM_004836.7(EIF2AK3):c.*635G>A rs180734302
NM_004836.7(EIF2AK3):c.*864_*869ATGTTT[1] rs565147927
NM_004836.7(EIF2AK3):c.*894_*897AATC[1] rs886056411
NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg) rs771612567
NM_004836.7(EIF2AK3):c.2073T>C (p.Asp691=) rs747687191
NM_004836.7(EIF2AK3):c.2092C>A (p.Arg698Ser) rs189064501
NM_004836.7(EIF2AK3):c.2093G>A (p.Arg698His) rs780592115
NM_004836.7(EIF2AK3):c.2135T>C (p.Ile712Thr) rs760433148
NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr) rs201662849
NM_004836.7(EIF2AK3):c.2500G>A (p.Ala834Thr) rs751296708
NM_004836.7(EIF2AK3):c.2507A>T (p.Lys836Ile) rs200270016
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=) rs56094918
NM_004836.7(EIF2AK3):c.2736C>T (p.Ser912=) rs886056416
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=) rs10208681

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