ClinVar Miner

List of variants in gene CHRNA1 reported as uncertain significance for Robin sequence; Autistic behavior; Short stature; Anemia; Distal arthrogryposis; Spastic diplegia; Gingival overgrowth; Dolichocephaly; Abnormality of mitochondrial metabolism; Congenital facial diplegia; Congenital encephalopathy; Congenital bilateral ptosis; Congenital conductive hearing impairment; Symptomatic seizures; Severe global developmental delay; Oromandibular dystonia; Mitochondrial respiratory chain defects

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr)

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