List of variants studied for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency by 3billion

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001429.3(EP300):c.3857A>G	rs1555910821
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)
NM_001429.4(EP300):c.1861G>A (p.Glu621Lys)	rs778829658
NM_001429.4(EP300):c.2132-1G>A	rs2145734002
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
NM_001429.4(EP300):c.2998-3_2998-2del	rs2145740556
NM_001429.4(EP300):c.3671+1G>A	rs2059103511
NM_001429.4(EP300):c.3826_3827dup (p.Leu1276fs)	rs2145759333
NM_001429.4(EP300):c.4340T>G (p.Ile1447Ser)	rs2145766562
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)	rs1057517732
NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro)	rs2145516079
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser)	rs1379274045

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