ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome by Autoinflammatory diseases unit, CHU de Montpellier

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs) rs2059210417
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter) rs1302427305
NM_004380.3(CREBBP):c.3598del (p.Cys1200fs) rs2052622209

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