ClinVar Miner

List of variants in gene TNPO3 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=) rs142359170 0.00093
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val) rs61756249 0.00061
NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile) rs61756250 0.00037
NM_012470.4(TNPO3):c.1090A>C (p.Ile364Leu) rs983345752 0.00003
NM_012470.4(TNPO3):c.574G>C (p.Gly192Arg) rs770701668 0.00003
NM_012470.4(TNPO3):c.2058A>G (p.Thr686=) rs1585330590 0.00001
NM_012470.4(TNPO3):c.2333A>G (p.Gln778Arg) rs1339666918 0.00001
NM_012470.4(TNPO3):c.550T>C (p.Leu184=) rs757199066 0.00001
NM_012470.4(TNPO3):c.1100C>A (p.Ala367Asp)
NM_012470.4(TNPO3):c.1409C>T (p.Pro470Leu) rs137891112
NM_012470.4(TNPO3):c.1433G>A (p.Arg478Gln)
NM_012470.4(TNPO3):c.2040G>C (p.Leu680=)
NM_012470.4(TNPO3):c.2545A>T (p.Thr849Ser) rs566110160
NM_012470.4(TNPO3):c.2760del (p.Arg920fs) rs2128974636

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.