List of variants in gene CEBPA reported by Clinical Genetics and Genomics, Karolinska University Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004364.5(CEBPA):c.137del (p.Pro46fs)	rs1967197402
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter)	rs1210600080
NM_004364.5(CEBPA):c.201del (p.Ala66_Tyr67insTer)	rs1967194538
NM_004364.5(CEBPA):c.247del (p.Gln83fs)	rs1967192886
NM_004364.5(CEBPA):c.247dup (p.Gln83fs)	rs1967192886
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs)	rs1555742213
NM_004364.5(CEBPA):c.367G>T (p.Gly123Ter)	rs1967187396
NM_004364.5(CEBPA):c.436dup (p.Leu146fs)	rs1967184344
NM_004364.5(CEBPA):c.655_656insG (p.His219fs)	rs1967174141
NM_004364.5(CEBPA):c.68dup (p.His24fs)	rs137852728
NM_004364.5(CEBPA):c.747dup (p.Gly250fs)	rs1967171093
NM_004364.5(CEBPA):c.856C>G (p.Arg286Gly)	rs1967165458
NM_004364.5(CEBPA):c.911_1038dup (p.Glu347delinsSerSerAlaThrTrpArgArgSerArgArgCysTrpSerTer)	rs1967157292
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter)	rs1967162539
NM_004364.5(CEBPA):c.933_934insTTC (p.Gln311_Gln312insPhe)	rs1967162464
NM_004364.5(CEBPA):c.938_939insTCT (p.Lys313delinsAsnLeu)	rs1967162270

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.