ClinVar Miner

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

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_004836.7(EIF2AK3):c.1306+1G>A rs750939022 0.00001
NM_004836.7(EIF2AK3):c.1002+1G>C rs1192258846
NM_004836.7(EIF2AK3):c.1002+2T>C rs2529171218
NM_004836.7(EIF2AK3):c.1172dup (p.Tyr391Ter)
NM_004836.7(EIF2AK3):c.1292G>A (p.Trp431Ter) rs2529165321
NM_004836.7(EIF2AK3):c.1293G>A (p.Trp431Ter)
NM_004836.7(EIF2AK3):c.1306+1G>C rs750939022
NM_004836.7(EIF2AK3):c.1538del (p.Lys513fs) rs1674719462
NM_004836.7(EIF2AK3):c.1570_1573del (p.Lys523_Glu524insTer) rs1558652941
NM_004836.7(EIF2AK3):c.1578dup (p.Ala527fs) rs763113675
NM_004836.7(EIF2AK3):c.1690A>T (p.Lys564Ter)
NM_004836.7(EIF2AK3):c.1691_1692insT (p.Lys564fs)
NM_004836.7(EIF2AK3):c.1758_1759dup (p.Ser587fs)
NM_004836.7(EIF2AK3):c.1762C>T (p.Arg588Ter) rs754973185
NM_004836.7(EIF2AK3):c.1763+1G>A
NM_004836.7(EIF2AK3):c.1764-2A>G rs1674549393
NM_004836.7(EIF2AK3):c.1853_1856dup (p.Tyr619Ter)
NM_004836.7(EIF2AK3):c.1886+2T>C rs2529140086
NM_004836.7(EIF2AK3):c.1974G>A (p.Trp658Ter)
NM_004836.7(EIF2AK3):c.2125del (p.Ile709fs) rs2529129420
NM_004836.7(EIF2AK3):c.2128G>T (p.Glu710Ter) rs1674430442
NM_004836.7(EIF2AK3):c.2198C>A (p.Ser733Ter)
NM_004836.7(EIF2AK3):c.2256_2286del (p.Ser752fs) rs2529128780
NM_004836.7(EIF2AK3):c.249_265dup (p.Gly89fs)
NM_004836.7(EIF2AK3):c.2506A>T (p.Lys836Ter)
NM_004836.7(EIF2AK3):c.2506_2509del (p.Asn835_Lys836insTer)
NM_004836.7(EIF2AK3):c.2588del (p.Thr862_Leu863insTer) rs1674412113
NM_004836.7(EIF2AK3):c.2695del (p.Trp899fs)
NM_004836.7(EIF2AK3):c.2699del (p.Met900fs) rs2529126807
NM_004836.7(EIF2AK3):c.2778dup (p.Phe927fs) rs2529126093
NM_004836.7(EIF2AK3):c.2890C>T (p.Gln964Ter) rs2529117164
NM_004836.7(EIF2AK3):c.295C>T (p.Arg99Ter) rs2528308185
NM_004836.7(EIF2AK3):c.2969A>G (p.Tyr990Cys) rs2529116929
NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs) rs2104387177
NM_004836.7(EIF2AK3):c.308+1G>A
NM_004836.7(EIF2AK3):c.3081_3082del (p.Arg1027fs) rs2529098558
NM_004836.7(EIF2AK3):c.3088-1G>C rs1553405795
NM_004836.7(EIF2AK3):c.439del rs2529183133
NM_004836.7(EIF2AK3):c.598_599del (p.Leu200fs) rs766432619
NM_004836.7(EIF2AK3):c.616_617del (p.Ser206fs)
NM_004836.7(EIF2AK3):c.641A>G (p.Tyr214Cys) rs1327996297
NM_004836.7(EIF2AK3):c.650C>G (p.Ser217Ter)
NM_004836.7(EIF2AK3):c.672G>A (p.Trp224Ter) rs2529177807
NM_004836.7(EIF2AK3):c.765del (p.Lys256fs)
NM_004836.7(EIF2AK3):c.768del rs2529171945

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