ClinVar Miner

List of variants in gene combination CEBPA, LOC130064183 reported as likely benign for bone marrow disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004364.5(CEBPA):c.39C>G (p.Pro13=) rs1015459376 0.00002
NM_004364.5(CEBPA):c.24G>A (p.Glu8=) rs1967204947 0.00001
NM_004364.5(CEBPA):c.42G>A (p.Pro14=) rs1967203363 0.00001
NM_004364.5(CEBPA):c.18C>T (p.Phe6=) rs2145265092
NM_004364.5(CEBPA):c.27G>A (p.Ala9=) rs1555742328
NM_004364.5(CEBPA):c.27G>T (p.Ala9=) rs1555742328
NM_004364.5(CEBPA):c.33G>A (p.Pro11=)
NM_004364.5(CEBPA):c.36G>A (p.Arg12=) rs2145264978
NM_004364.5(CEBPA):c.39C>T (p.Pro13=) rs1015459376
NM_004364.5(CEBPA):c.9G>C (p.Ser3=) rs2145265134
NM_004364.5(CEBPA):c.9G>T (p.Ser3=) rs2145265134

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