List of variants in gene EP300 reported as likely pathogenic by GeneDx

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.3205G>A (p.Asp1069Asn)	rs2145744796
NM_001429.4(EP300):c.3649G>A (p.Asp1217Asn)	rs1085307911
NM_001429.4(EP300):c.4016T>C (p.Met1339Thr)	rs1064795607
NM_001429.4(EP300):c.4453-10_4453-8delinsAAAC	rs2145769898
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr)	rs1057521737
NM_001429.4(EP300):c.5074T>C (p.Cys1692Arg)	rs1555912107
NM_001429.4(EP300):c.5074T>G (p.Cys1692Gly)	rs1555912107
NM_001429.4(EP300):c.5483T>C (p.Leu1828Pro)	rs1057518002
NM_001429.4(EP300):c.5571_5578del (p.Gly1860fs)	rs1085307564
NM_001429.4(EP300):c.6058del (p.Gln2020fs)	rs2145519140
NM_001429.4(EP300):c.6298_6317del (p.Ile2100fs)	rs2517834474
NM_001429.4(EP300):c.6787C>T (p.Arg2263Ter)	rs1354580969
NM_001429.4(EP300):c.6868C>T (p.Gln2290Ter)	rs1555912362
NM_001429.4(EP300):c.6970dup (p.His2324fs)	rs754418509
NM_001429.4(EP300):c.7223A>G (p.Gln2408Arg)	rs2145524882

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