ClinVar Miner

List of variants in gene CEBPA reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_004364.5(CEBPA):c.693C>G (p.Pro231=) rs550308123 0.00808
NM_004364.5(CEBPA):c.756G>T (p.Ala252=) rs571969199 0.00778
NM_004364.5(CEBPA):c.1041G>A (p.Glu347=) rs141430731 0.00752
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730 0.00029
NM_004364.5(CEBPA):c.789C>T (p.Leu263=) rs552131738 0.00028
NM_004364.5(CEBPA):c.561G>C (p.Pro187=) rs538441046 0.00022
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser) rs919904139 0.00021
NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser) rs587778192 0.00003
NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser) rs1328994773 0.00003
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala) rs1162371435 0.00002
NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu) rs917977456 0.00001
NM_004364.5(CEBPA):c.532C>G (p.Leu178Val) rs1325138029 0.00001
NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser) rs1347174767 0.00001
NM_004364.5(CEBPA):c.776C>T (p.Ala259Val) rs746895795 0.00001
NM_004364.5(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.5(CEBPA):c.260_261dup (p.Gln88fs) rs2145263441
NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del) rs780345232
NM_004364.5(CEBPA):c.324C>T (p.Tyr108=) rs1555742221
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs) rs1555742213
NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_004364.5(CEBPA):c.576G>T (p.Pro192=) rs878854703
NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro) rs1555742103
NM_004364.5(CEBPA):c.579C>T (p.His193=) rs1260660049
NM_004364.5(CEBPA):c.914A>C (p.Gln305Pro) rs1479225242

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