ClinVar Miner

List of variants in gene EP300 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 12
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HGVS dbSNP
NM_001429.3(EP300):c.2240C>T (p.Pro747Leu) rs193026103
NM_001429.3(EP300):c.2242-8T>C rs199931034
NM_001429.3(EP300):c.3063T>C (p.Thr1021=) rs142431552
NM_001429.3(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001429.3(EP300):c.324C>T (p.Ala108=) rs138876937
NM_001429.3(EP300):c.5061+10G>A rs78432056
NM_001429.3(EP300):c.5147G>C (p.Ser1716Thr) rs147676363
NM_001429.3(EP300):c.5914A>G (p.Met1972Val) rs373725137
NM_001429.3(EP300):c.6390G>A (p.Met2130Ile) rs147973806
NM_001429.3(EP300):c.6798_6800delGCA (p.Gln2268del) rs533875300
NM_001429.3(EP300):c.6969C>G (p.Pro2323=) rs111489369
NM_001429.3(EP300):c.865A>G (p.Met289Val) rs2230111

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