ClinVar Miner

List of variants in gene EP300 reported as pathogenic for not provided

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Total variants: 12
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HGVS dbSNP
NM_001429.4(EP300):c.2540dup (p.Ser848fs) rs1569107391
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter) rs886041830
NM_001429.4(EP300):c.319C>T (p.Gln107Ter) rs1064797038
NM_001429.4(EP300):c.3412dup (p.Val1138fs) rs1555910122
NM_001429.4(EP300):c.3472C>T (p.Gln1158Ter) rs886041739
NM_001429.4(EP300):c.3502-1G>T rs886041520
NM_001429.4(EP300):c.3841C>T (p.Arg1281Ter) rs1555910814
NM_001429.4(EP300):c.3934C>T (p.Arg1312Ter) rs1555911075
NM_001429.4(EP300):c.4065C>A (p.Tyr1355Ter) rs886043598
NM_001429.4(EP300):c.4188_4189insCCTATGTATATCTCCTATACATATCTCCTATCGAACA (p.Tyr1397fs) rs1064794624
NM_001429.4(EP300):c.4190_4191dup (p.Leu1398fs) rs1555911201
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732

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