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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.1303G>A (p.Val435Ile)	rs779573838	0.00001
NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)	rs1601621541	0.00001
NM_001429.4(EP300):c.1225C>T (p.His409Tyr)	rs2145713608
NM_001429.4(EP300):c.2960C>T (p.Pro987Leu)	rs2145740050
NM_001429.4(EP300):c.4432C>T (p.Arg1478Cys)	rs1445337631
NM_001429.4(EP300):c.4856T>A (p.Ile1619Asn)

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