ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome by GenomeConnect, ClinGen

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001079846.1(CREBBP):c.2827G>A (p.Ala943Thr) rs61753380
Single allele

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