List of variants reported as benign for Triosephosphate isomerase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001159287.1(TPI1):c.69A>G (p.Arg23=)	rs1800200	0.09809
NM_000365.6(TPI1):c.*420T>C	rs58194764	0.08694
NM_001159287.1(TPI1):c.66G>A (p.Pro22=)	rs1800201	0.03488
NM_000365.6(TPI1):c.544-10C>G	rs115061797	0.02638
NM_000365.6(TPI1):c.631+13G>A	rs60115912	0.02344
NM_000365.6(TPI1):c.544-14G>A	rs72661109	0.01198
NM_000365.6(TPI1):c.*341C>T	rs1804544	0.01157
NM_000365.6(TPI1):c.*39G>A	rs12692	0.00504
NM_000365.6(TPI1):c.600G>A (p.Ala200=)	rs61747602	0.00452
NM_000365.6(TPI1):c.321T>C (p.Asp107=)	rs141972556	0.00104
NM_000365.6(TPI1):c.*388C>T	rs540279409	0.00031
NM_000365.6(TPI1):c.116-12T>C	rs369077745	0.00019

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.