ClinVar Miner

List of variants in gene combination EP300, LOC126863158 reported as uncertain significance for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2

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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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)	rs1601621541	0.00001
NM_001429.4(EP300):c.2960C>T (p.Pro987Leu)	rs2145740050

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