ClinVar Miner

List of variants in gene CREBBP reported as likely pathogenic for Abnormality of the thumb; Spasticity; Synophrys; Thin vermilion border; Morphological abnormality of the central nervous system; Spinal dysraphism

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_001079846.1(CREBBP):c.6071_6081del (p.Ile2024fs) rs1555471098

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