ClinVar Miner

List of variants in gene CEBPA reported as benign for acute disease

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004364.5(CEBPA):c.690G>T (p.Thr230=) rs34529039 0.16355
NM_004364.5(CEBPA):c.573C>T (p.His191=) rs192240793 0.02004
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.612G>C (p.Pro204=) rs552634598 0.00214
NM_004364.5(CEBPA):c.561G>C (p.Pro187=) rs538441046 0.00022
NM_004364.5(CEBPA):c.811G>C (p.Ala271Pro) rs756632245 0.00015
NM_004364.5(CEBPA):c.459G>A (p.Pro153=) rs779373951 0.00001
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.572ACCCGC[4] (p.191HP[4]) rs762459325

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