List of variants in gene EP300 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.1164C>A (p.Cys388Ter)	rs1555907286
NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro)	rs1569120903
NM_001429.4(EP300):c.5485C>T (p.Arg1829Cys)	rs2145516075
NM_001429.4(EP300):c.5873del (p.Pro1958fs)	rs2145518271
NM_001429.4(EP300):c.6532C>T (p.Gln2178Ter)

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