List of variants in gene EP300 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001429.3(EP300):c.3857A>G	rs1555910821
NM_001429.4(EP300):c.104_107del (p.Ser35fs)	rs886037664
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)	rs137853038
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter)	rs137853039
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)	rs1057517732
NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro)	rs1569120903
NM_001429.4(EP300):c.5489GGA[1] (p.Arg1831del)	rs1569120910
NM_001429.4(EP300):c.638del (p.Gly213fs)	rs1569090642
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln)	rs28937578
NM_001429.4(EP300):c.7100del (p.Pro2367fs)	rs1569122847
NM_001429.4:c.730_1760del

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