ClinVar Miner

List of variants in gene CEBPA reported by Ambry Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser) rs919904139 0.00021
NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp) rs746522150 0.00004
NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr) rs996435066 0.00002
NM_004364.5(CEBPA):c.145C>A (p.Pro49Thr) rs2145264153
NM_004364.5(CEBPA):c.217T>G (p.Phe73Val)
NM_004364.5(CEBPA):c.298G>C (p.Gly100Arg)
NM_004364.5(CEBPA):c.451G>T (p.Gly151Trp) rs986682061
NM_004364.5(CEBPA):c.746C>G (p.Pro249Arg)
NM_004364.5(CEBPA):c.874A>C (p.Asn292His) rs1555741996

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