ClinVar Miner

List of variants reported as pathogenic for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560

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