ClinVar Miner

List of variants in gene CEBPE reported as benign for phagocytic cell dysfunction

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001805.4(CEBPE):c.747C>T (p.Arg249=) rs55722931 0.01359
NM_001805.4(CEBPE):c.234C>T (p.Pro78=) rs114913626 0.00784
NM_001805.4(CEBPE):c.511-15T>G rs147453535 0.00613
NM_001805.4(CEBPE):c.463C>A (p.Leu155Met) rs141903485 0.00539
NM_001805.4(CEBPE):c.558G>A (p.Ala186=) rs372854243 0.00034
NM_001805.4(CEBPE):c.225T>C (p.Pro75=) rs573591210 0.00013
NM_001805.4(CEBPE):c.34C>T (p.Arg12Trp)
NM_001805.4(CEBPE):c.511-24G>A rs45496295

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