ClinVar Miner

List of variants reported as likely pathogenic by Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1048+5G>T rs890755853
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) rs1399429058
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755
NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg) rs138305578
NM_007055.4(POLR3A):c.3770_3771CT[1] (p.Leu1258fs) rs1564612961
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) rs757209071
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183

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.