List of variants in gene PNPT1 reported as uncertain significance for autosomal recessive disease

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)	rs34928857	0.00131
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly)	rs149843729	0.00038
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg)	rs1318691269	0.00002
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)	rs574670461	0.00001
NM_033109.5(PNPT1):c.1176+439G>A
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del)	rs1572796197
NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)
NM_033109.5(PNPT1):c.2106G>C (p.Met702Ile)
NM_033109.5(PNPT1):c.393T>G (p.Ser131Arg)

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.