ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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.1446_1447TC[1] (p.Leu483fs) rs1567309482
NM_001429.4(EP300):c.2064dup (p.Pro689fs) rs1601617062
NM_004380.3(CREBBP):c.2031del (p.Ile678fs) rs1555483716
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)

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