ClinVar Miner

List of variants reported as benign for Rubinstein-Taybi syndrome 1 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 7
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HGVS dbSNP
NM_001429.4(EP300):c.*10_*12GTA[1] rs35508493
NM_001429.4(EP300):c.2053+8G>T rs6002267
NM_001429.4(EP300):c.2380-15T>C rs17002316
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554
NM_001429.4(EP300):c.730-18_730-9del rs61120041

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