ClinVar Miner

List of variants reported as pathogenic for childhood encephalopathy due to thiamine pyrophosphokinase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1):

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_022445.4(TPK1):c.501+4A>T	rs375169579	0.00009
NM_022445.4(TPK1):c.246C>A (p.Tyr82Ter)	rs970696642	0.00001

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