ClinVar Miner

List of variants in gene POLR3A reported as pathogenic by MyeliNeuroGene Lab,McGill University Health Center Research Institute

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter) rs769791060
NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter) rs1472614573
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) rs780839834
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) rs747683665
NM_007055.4(POLR3A):c.601del (p.Ile201fs) rs777280350

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.