ClinVar Miner

List of variants reported as likely benign for Wolcott-Rallison dysplasia

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Total variants: 16
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HGVS dbSNP gnomAD frequency
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.1539G>A (p.Lys513=) rs55716350 0.00058
NM_004836.7(EIF2AK3):c.402C>T (p.Ser134=) rs377401079 0.00033
NM_004836.7(EIF2AK3):c.2286G>T (p.Gln762His) rs777171158 0.00012
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) rs539891019 0.00006
NM_004836.7(EIF2AK3):c.72G>C (p.Ala24=) rs1052744793 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.633+15T>C rs776777727 0.00002
NM_004836.7(EIF2AK3):c.1307-4T>G rs548802949 0.00001
NM_004836.7(EIF2AK3):c.1446A>G (p.Leu482=) rs753150455 0.00001
NM_004836.7(EIF2AK3):c.441A>G (p.Val147=) rs138199678 0.00001
NM_004836.7(EIF2AK3):c.906A>C (p.Glu302Asp) rs549674310 0.00001
NM_004836.7(EIF2AK3):c.598C>T (p.Leu200=) rs1674997611

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