ClinVar Miner

List of variants in gene EP300 studied for carcinoma

Included ClinVar conditions (243):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg) rs138584705 0.00010
NM_001429.4(EP300):c.5598G>A (p.Pro1866=) rs560633624 0.00009
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val) rs887226313 0.00002
NC_000022.11:g.(?_41154975)_(41164150_?)del
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln) rs28937578
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe) rs752065194
NM_001429.4(EP300):c.832del (p.Thr278fs) rs2058879988

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