ClinVar Miner

List of variants in gene CEBPA reported by Genomic Diagnostics Laboratory, National Institute of Medical Genomics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_004364.5(CEBPA):c.146del (p.Pro49fs)
NM_004364.5(CEBPA):c.174_184del (p.Glu59fs)
NM_004364.5(CEBPA):c.180_183del (p.Ile62fs)
NM_004364.5(CEBPA):c.247del (p.Gln83fs) rs1967192886
NM_004364.5(CEBPA):c.292del (p.Thr98fs)
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.334_336del (p.Pro112del)
NM_004364.5(CEBPA):c.426del (p.Arg142fs)
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup) rs746430067
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.918_919insGCGCTGCTTGGCCTTGTCGCAGAC (p.Arg306_Asn307insAlaLeuLeuGlyLeuValAlaAsp)
NM_004364.5(CEBPA):c.926_932delinsT (p.Glu309_Gln311delinsVal)
NM_004364.5(CEBPA):c.931CAG[3] (p.Gln312_Lys313insGln)
NM_004364.5(CEBPA):c.946_947insGGA (p.Glu316delinsGlyLys)

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