ClinVar Miner

List of variants reported as pathogenic for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency by Wessex Regional Genetics Laboratory,Salisbury District Hospital

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001429.4(EP300):c.102_103CT[1] (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer) rs1601610306
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter) rs1601613391
NM_001429.4(EP300):c.2244_2250TATGGGC[1] (p.Tyr751fs) rs1601618876
NM_001429.4(EP300):c.3367del (p.Met1124fs) rs1601624722
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs) rs1601624754
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter) rs1601634247
NM_001429.4(EP300):c.494_497del (p.Met165fs) rs1601598354
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) rs1555912040
NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs) rs1601640102
NM_001429.4(EP300):c.5747dup (p.Pro1917fs) rs1601640370
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp) rs1601642812

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