List of variants in gene EP300 reported by Mendelics

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)	rs148884710	0.00410
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)	rs61756764	0.00379
NM_001429.4(EP300):c.4026G>A (p.Arg1342=)	rs146119145	0.00016
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)	rs201480900	0.00011
NM_001429.4(EP300):c.3143-1G>T	rs1230152737
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter)	rs565779970
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)	rs143660871
NM_001429.4(EP300):c.3707dup (p.Asn1236fs)	rs1601628237
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)	rs1601629319
NM_001429.4(EP300):c.3875-2A>C	rs2145762711
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter)	rs1601636935
NM_001429.4(EP300):c.4783T>A (p.Phe1595Ile)	rs1057517732
NM_001429.4(EP300):c.5633C>A (p.Thr1878Asn)	rs1484157418
NM_001429.4(EP300):c.5832C>G (p.His1944Gln)	rs142885571
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)	rs533875300
NM_001429.4(EP300):c.6954_6965del (p.Gln2319_Pro2322del)	rs2145523070
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del)	rs1601642386

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