ClinVar Miner

List of variants in gene EP300 reported as pathogenic for digestive system cancer

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NC_000022.11:g.(?_41131368)_(41140277_?)del
NC_000022.11:g.(?_41151813)_(41152370_?)del
NC_000022.11:g.(?_41154975)_(41164150_?)del
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.3875-2A>C rs2145762711
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4783T>A (p.Phe1595Ile) rs1057517732
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln) rs28937578
NM_001429.4(EP300):c.832del (p.Thr278fs) rs2058879988

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