ClinVar Miner

List of variants in gene PNPT1 reported by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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.412A>G (p.Ile138Val) rs76401964 0.00111
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00038
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_033109.5(PNPT1):c.1121T>C (p.Val374Ala) rs377657203 0.00003
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg) rs1318691269 0.00002
NM_033109.5(PNPT1):c.1176+439G>A
NM_033109.5(PNPT1):c.1906+1G>A rs1695931094
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del) rs1572796197
NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val) rs144252007
NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)
NM_033109.5(PNPT1):c.2106G>C (p.Met702Ile)
NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala) rs750110394
NM_033109.5(PNPT1):c.298-2A>T rs1478363532
NM_033109.5(PNPT1):c.393T>G (p.Ser131Arg)
NM_033109.5(PNPT1):c.918del (p.Val307fs) rs1696930196

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.