ClinVar Miner

List of variants reported as pathogenic for childhood encephalopathy due to thiamine pyrophosphokinase deficiency by Laboratory of Metabolic Disorders, Peking University First Hospital

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.395T>C (p.Phe132Ser) rs1417315589
NM_022445.4(TPK1):c.614-1G>A rs776874412

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