ClinVar Miner

List of variants reported as pathogenic for Rubinstein-Taybi syndrome by OMIM

Included ClinVar conditions (6):
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Total variants: 17
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HGVS dbSNP
CREBBP, 2-BP DEL, NT5222
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
NM_001079846.1(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001079846.1(CREBBP):c.3410A>G (p.Tyr1137Cys) rs28937315
NM_001079846.1(CREBBP):c.3718G>A (p.Glu1240Lys) rs267606752
NM_001079846.1(CREBBP):c.3723-2A>T rs1567277287
NM_001079846.1(CREBBP):c.4019G>C (p.Arg1340Pro) rs121434626
NM_001079846.1(CREBBP):c.406C>T (p.Gln136Ter) rs121434624
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.102_103CT[1] (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter) rs137853039
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs) rs1569108381
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.638del (p.Gly213fs) rs1569090642
NM_001429.4(EP300):c.7100del (p.Pro2367fs) rs1569122847
NM_001429.4:c.730_1760del

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