ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001079846.1(CREBBP):c.3665+1G>A rs587783483
NM_001079846.1(CREBBP):c.5123G>T (p.Gly1708Val) rs869312714
NM_001079846.1(CREBBP):c.6210C>A (p.Tyr2070Ter) rs199821421
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737

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