ClinVar Miner

List of variants in gene POLR3B reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile) rs755312623 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018082.6(POLR3B):c.1263+1G>A rs1565893138 0.00001
NM_018082.6(POLR3B):c.1324C>T (p.Arg442Cys) rs1442212683 0.00001
NM_018082.6(POLR3B):c.1464+1G>A rs1158662109 0.00001
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr) rs146513209 0.00001
NC_000012.11:g.(?_106799615)_(106799774_?)del
NM_018082.6(POLR3B):c.1087G>A (p.Glu363Lys) rs2136937347
NM_018082.6(POLR3B):c.1101+1G>C rs773891661
NM_018082.6(POLR3B):c.1102-2A>G
NM_018082.6(POLR3B):c.1123G>T (p.Asp375Tyr)
NM_018082.6(POLR3B):c.1124A>T (p.Asp375Val) rs2037451945
NM_018082.6(POLR3B):c.1277T>C (p.Leu426Ser) rs2037490138
NM_018082.6(POLR3B):c.1304G>T (p.Gly435Val)
NM_018082.6(POLR3B):c.1373A>C (p.Gln458Pro) rs2137002084
NM_018082.6(POLR3B):c.1385C>G (p.Thr462Arg) rs2037492289
NM_018082.6(POLR3B):c.1628-1G>C
NM_018082.6(POLR3B):c.1939G>A (p.Glu647Lys) rs755658678
NM_018082.6(POLR3B):c.2207G>C (p.Gly736Ala) rs1064796907
NM_018082.6(POLR3B):c.2293+1G>A
NM_018082.6(POLR3B):c.2376del (p.Met794fs) rs1592752356
NM_018082.6(POLR3B):c.2570+5G>A
NM_018082.6(POLR3B):c.72+2T>G
NM_018082.6(POLR3B):c.73-2A>T
NM_018082.6(POLR3B):c.847-2A>G

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.