ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Cole/Wambach Lab, Washington University in St. Louis and "likely pathogenic" from any submitter

Minimum review status of the submission from Cole/Wambach Lab, Washington University in St. Louis: Collection method of the submission from Cole/Wambach Lab, Washington University in St. Louis:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_007055.4(POLR3A):c.1572+1G>A rs141484643 0.00003
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124 0.00002
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755 0.00001
NM_007055.4(POLR3A):c.3337-5T>A rs368905417 0.00001
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.490+1G>A rs1564623882

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.