ClinVar Miner

List of variants in gene EP300 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 26
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HGVS dbSNP
NM_001429.4(EP300):c.103T>G (p.Ser35Ala) rs546292445
NM_001429.4(EP300):c.1442C>T (p.Pro481Leu)
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873
NM_001429.4(EP300):c.1573C>T (p.Pro525Ser) rs886042427
NM_001429.4(EP300):c.1710G>A (p.Gln570=) rs886043092
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256
NM_001429.4(EP300):c.2252A>G (p.Tyr751Cys)
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368
NM_001429.4(EP300):c.3330G>T (p.Gln1110His) rs374163115
NM_001429.4(EP300):c.3591-6C>T rs368437789
NM_001429.4(EP300):c.4347T>C (p.His1449=) rs137986257
NM_001429.4(EP300):c.471A>G (p.Pro157=)
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184
NM_001429.4(EP300):c.5572C>G (p.Pro1858Ala) rs398123610
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)
NM_001429.4(EP300):c.569A>G (p.Gln190Arg)
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237
NM_001429.4(EP300):c.574A>T (p.Met192Leu) rs771650739
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215
NM_001429.4(EP300):c.6713A>G (p.Asn2238Ser) rs767335677
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157

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