ClinVar Miner

List of variants in gene CEBPA reported as pathogenic for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_001285829.1(CEBPA):c.-107A>T rs28931590
NM_001285829.1(CEBPA):c.-147_-144dup rs587776849
NM_001285829.1(CEBPA):c.-210G>T rs121912791
NM_001285829.1(CEBPA):c.-217del rs137852730
NM_001285829.1(CEBPA):c.-243_-237del rs587776848
NM_001285829.1(CEBPA):c.-290del rs137852728
NM_004364.4(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.4(CEBPA):c.198_201dupCTAC (p.Ile68Leufs*41) rs137852731
NM_004364.4(CEBPA):c.217_218insC (p.Phe73fs) rs137852733
NM_004364.4(CEBPA):c.318_319dupTG (p.Asp107Valfs*54) rs137852732
NM_004364.4(CEBPA):c.68dupC (p.His24Alafs) rs137852728
NM_004364.4(CEBPA):c.925_951dup (p.Glu309_Leu317dup) rs1555741967
NM_004364.4(CEBPA):c.935_991dup (p.Gln312_Gln330dup) rs1555741948
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter)
NM_004364.5(CEBPA):c.206del (p.Asp69fs)
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter)
NM_004364.5(CEBPA):c.332_339del rs1555742213

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