ClinVar Miner

Variants studied for 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

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
2 0 0 0 0 2

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic total
CHAT 2 2

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic total
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2

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