ClinVar Miner

List of variants in gene CHAT studied for Apnea, central sleep; Respiratory insufficiency; Febrile seizures; Pes planus; Lactic acidosis; External ophthalmoplegia; Gastroesophageal reflux; Decreased activity of the pyruvate dehydrogenase complex; Progressive muscle weakness; Progressive ptosis; Aspiration pneumonia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) rs769234940
NM_020549.4(CHAT):c.2081C>G (p.Ser694Cys) rs201439531

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