ClinVar Miner

List of variants reported as uncertain significance for Wolcott-Rallison dysplasia by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_004836.6(EIF2AK3):c.-201A>G rs144057685 0.00660
NM_004836.7(EIF2AK3):c.*635G>A rs180734302 0.00131
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr) rs145427892 0.00096
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) rs147458427 0.00060
NM_004836.7(EIF2AK3):c.*363_*364del rs533135276 0.00041
NM_004836.7(EIF2AK3):c.1504G>A (p.Asp502Asn) rs141901506 0.00032
NM_004836.7(EIF2AK3):c.1173T>C (p.Tyr391=) rs146949180 0.00017
NM_004836.7(EIF2AK3):c.*271T>G rs886056414 0.00013
NM_004836.7(EIF2AK3):c.*360C>T rs551581209 0.00012
NM_004836.7(EIF2AK3):c.*356A>G rs974625421 0.00011
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_004836.7(EIF2AK3):c.1719T>C (p.Asn573=) rs137927384 0.00009
NM_004836.7(EIF2AK3):c.13A>G (p.Ile5Val) rs886056419 0.00008
NM_004836.7(EIF2AK3):c.*99C>T rs771892864 0.00006
NM_004836.7(EIF2AK3):c.-17C>G rs755314163 0.00006
NM_004836.7(EIF2AK3):c.68T>G (p.Leu23Arg) rs886056418 0.00006
NM_004836.6(EIF2AK3):c.-263T>C rs762232975 0.00005
NM_004836.7(EIF2AK3):c.*408T>G rs148457589 0.00004
NM_004836.7(EIF2AK3):c.-10C>T rs1291618208 0.00003
NM_004836.7(EIF2AK3):c.1165+10T>C rs745614562 0.00003
NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=) rs765544171 0.00003
NM_004836.7(EIF2AK3):c.2736C>T (p.Ser912=) rs886056416 0.00003
NM_004836.7(EIF2AK3):c.1332G>A (p.Leu444=) rs779731596 0.00002
NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr) rs201662849 0.00002
NM_004836.7(EIF2AK3):c.2500G>A (p.Ala834Thr) rs751296708 0.00002
NM_004836.7(EIF2AK3):c.2507A>T (p.Lys836Ile) rs200270016 0.00002
NM_004836.7(EIF2AK3):c.*175A>T rs886056415 0.00001
NM_004836.7(EIF2AK3):c.*340A>G rs1376568962 0.00001
NM_004836.7(EIF2AK3):c.*712C>T rs1415152930 0.00001
NM_004836.7(EIF2AK3):c.1310C>A (p.Ser437Tyr) rs200574679 0.00001
NM_004836.7(EIF2AK3):c.1601T>C (p.Ile534Thr) rs747376208 0.00001
NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg) rs771612567 0.00001
NM_004836.7(EIF2AK3):c.2073T>C (p.Asp691=) rs747687191 0.00001
NM_004836.7(EIF2AK3):c.2093G>A (p.Arg698His) rs780592115 0.00001
NM_004836.7(EIF2AK3):c.2135T>C (p.Ile712Thr) rs760433148 0.00001
NM_004836.7(EIF2AK3):c.2467A>G (p.Lys823Glu) rs374540128 0.00001
NM_004836.7(EIF2AK3):c.2935G>A (p.Ala979Thr) rs766524866 0.00001
NM_004836.7(EIF2AK3):c.737G>A (p.Arg246Lys) rs775353963 0.00001
NM_004836.7(EIF2AK3):c.786C>A (p.Gly262=) rs375371096 0.00001
NM_004836.6(EIF2AK3):c.-195G>T rs886056421
NM_004836.7(EIF2AK3):c.*104A>C rs1474906844
NM_004836.7(EIF2AK3):c.*286G>C rs886056413
NM_004836.7(EIF2AK3):c.*300TA[7] rs767645334
NM_004836.7(EIF2AK3):c.*459G>T rs886056412
NM_004836.7(EIF2AK3):c.*864ATGTTT[1] rs565147927
NM_004836.7(EIF2AK3):c.*894AATC[1] rs886056411
NM_004836.7(EIF2AK3):c.-162G>A rs886056420
NM_004836.7(EIF2AK3):c.101G>A (p.Arg34His) rs1675887917
NM_004836.7(EIF2AK3):c.1092T>A (p.Asn364Lys) rs886056417
NM_004836.7(EIF2AK3):c.1726A>C (p.Ser576Arg) rs1674645367
NM_004836.7(EIF2AK3):c.2092C>A (p.Arg698Ser) rs189064501
NM_004836.7(EIF2AK3):c.212C>T (p.Thr71Ile) rs1675883639
NM_004836.7(EIF2AK3):c.2801T>G (p.Met934Arg) rs1674406193
NM_004836.7(EIF2AK3):c.3222T>A (p.Asn1074Lys) rs1441763585
NM_004836.7(EIF2AK3):c.53T>G (p.Leu18Arg) rs1045275032

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