ClinVar Miner

List of variants in gene CHAT studied for obsolete apnea, central sleep

Included ClinVar conditions (1):

Apnea, central sleep; Respiratory insufficiency; Febrile seizure (within the age range of 3 months to 6 years); 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: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)	rs769234940	0.00003
NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys)	rs201439531	0.00001

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