ClinVar Miner

List of variants in gene EIF2AK3 reported as pathogenic for Wolcott-Rallison dysplasia

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004836.7(EIF2AK3):c.1035dup (p.Lys346Ter) rs869025178
NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter) rs864621972
NM_004836.7(EIF2AK3):c.12del (p.Ile5fs) rs2103993244
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.1763G>A (p.Arg588Gln) rs121908569
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.994G>T (p.Glu332Ter) rs121908570

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