List of variants in gene EP300 reported as likely benign by Eurofins NTD LLC (GA)

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.865A>G (p.Met289Val)	rs2230111	0.00258
NM_001429.4(EP300):c.5061+10G>A	rs78432056	0.00135
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr)	rs147676363	0.00112
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile)	rs147973806	0.00101
NM_001429.4(EP300):c.6969C>G (p.Pro2323=)	rs111489369	0.00100
NM_001429.4(EP300):c.324C>T (p.Ala108=)	rs138876937	0.00020
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu)	rs193026103	0.00019
NM_001429.4(EP300):c.2242-8T>C	rs199931034	0.00018
NM_001429.4(EP300):c.5914A>G (p.Met1972Val)	rs373725137	0.00002
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)	rs533875300

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