ClinVar Miner

List of variants studied for Childhood encephalopathy due to thiamine pyrophosphokinase deficiency by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_022445.4(TPK1):c.501+4A>T rs375169579 0.00009
NM_022445.4(TPK1):c.491T>C (p.Leu164Pro) rs374946048 0.00003
NM_022445.4(TPK1):c.444C>G (p.Ile148Met)
NM_022445.4(TPK1):c.664G>C (p.Asp222His) rs368458768

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.