ClinVar Miner

List of variants reported as uncertain significance 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: 1
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NM_001429.4(EP300):c.6607C>G (p.Pro2203Ala) rs1358846937

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