ClinVar Miner

List of variants in gene EP300 studied for colorectal cancer

Included ClinVar conditions (91):
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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_001429.4(EP300):c.454G>A (p.Gly152Ser) rs142758675 0.00011
NM_001429.4(EP300):c.2367T>C (p.Ala789=) rs759989339 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_001429.4(EP300):c.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_001429.4(EP300):c.1887C>T (p.Tyr629=) rs144594889 0.00002
NM_001429.4(EP300):c.2513G>A (p.Arg838His) rs774840930 0.00001
NM_001429.4(EP300):c.5926C>T (p.Pro1976Ser) rs1427345303 0.00001
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.1366G>A (p.Val456Ile)
NM_001429.4(EP300):c.1424A>G (p.Tyr475Cys)
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.1878+1G>A rs2058974109
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) rs143660871
NM_001429.4(EP300):c.3778C>T (p.Leu1260Phe)
NM_001429.4(EP300):c.3806+3A>G rs1601629363
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)
NM_001429.4(EP300):c.3875-2A>C rs2145762711
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4756G>T (p.Ala1586Ser) rs1480723806
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.695G>C (p.Gly232Ala) rs1261612920
NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe) rs752065194
NM_001429.4(EP300):c.832del (p.Thr278fs) rs2058879988
NM_001429.4(EP300):c.965G>C (p.Gly322Ala)

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