List of variants in gene EP300 reported as likely pathogenic by Ambry Genetics

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.3502-2A>G	rs2059089321
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)	rs1057517732
NM_001429.4(EP300):c.6608dup (p.Gly2204fs)	rs2059215587
NM_001429.4(EP300):c.6986dup (p.Arg2330fs)	rs2059219404
NM_001429.4(EP300):c.7097del (p.Ser2366fs)	rs2059220495

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