ClinVar Miner

List of variants in gene CEBPA studied for Hereditary cancer-predisposing syndrome

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_004364.5(CEBPA):c.612G>C (p.Pro204=) rs552634598 0.00214
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730 0.00029
NM_004364.5(CEBPA):c.561G>C (p.Pro187=) rs538441046 0.00022
NM_004364.5(CEBPA):c.558G>A (p.Pro186=) rs1338027134 0.00012
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr) rs921077083 0.00011
NM_004364.5(CEBPA):c.396C>T (p.Gly132=) rs1060504475 0.00009
NM_004364.5(CEBPA):c.735C>T (p.Gly245=) rs925688689 0.00007
NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val) rs372931505 0.00006
NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser) rs1455462308 0.00005
NM_004364.5(CEBPA):c.765G>T (p.Gly255=) rs1163957359 0.00002
NM_004364.5(CEBPA):c.459G>A (p.Pro153=) rs779373951 0.00001
NM_004364.5(CEBPA):c.1051G>C (p.Val351Leu) rs373210526
NM_004364.5(CEBPA):c.263A>G (p.Gln88Arg) rs2145263423
NM_004364.5(CEBPA):c.288C>A (p.Gly96=) rs919975422
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.307G>T (p.Gly103Cys) rs2145263145
NM_004364.5(CEBPA):c.333G>T (p.Ala111=) rs2145262901
NM_004364.5(CEBPA):c.337G>C (p.Ala113Pro) rs1967188795
NM_004364.5(CEBPA):c.342_343insATGA (p.Pro115fs) rs2145262824
NM_004364.5(CEBPA):c.344_345del (p.Pro115fs) rs2145262808
NM_004364.5(CEBPA):c.350G>C (p.Gly117Ala) rs2145262770
NM_004364.5(CEBPA):c.355G>A (p.Val119Ile) rs902740061
NM_004364.5(CEBPA):c.356_359del (p.Val119fs) rs2145262693
NM_004364.5(CEBPA):c.365G>C (p.Gly122Ala) rs1311096326
NM_004364.5(CEBPA):c.437T>A (p.Leu146Gln) rs1481195051
NM_004364.5(CEBPA):c.52C>T (p.His18Tyr) rs1600024559
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del) rs746430067
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.572ACCCGC[5] (p.191HP[5]) rs762459325
NM_004364.5(CEBPA):c.576G>T (p.Pro192=) rs878854703
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg) rs867113214
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr) rs1478319097

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