ClinVar Miner

List of variants in gene POLR3B reported as not provided for central nervous system malformation

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018082.6(POLR3B):c.2817+30T>A rs142517808 0.00025
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter) rs148879912 0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_018082.6(POLR3B):c.1857-12A>G rs528038639 0.00002
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) rs775141057 0.00002
NM_018082.6(POLR3B):c.1253C>T (p.Ala418Val) rs2037453602 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.1857-2A>C rs267608686 0.00001
NM_018082.6(POLR3B):c.1900G>A (p.Asp634Asn) rs781671613 0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met) rs756536922 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_018082.6(POLR3B):c.308G>A (p.Arg103His) rs780148992 0.00001
NM_018082.6(POLR3B):c.1101+1G>C rs773891661
NM_018082.6(POLR3B):c.1112_1113del (p.Leu371fs) rs2037451732
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu) rs201153027
NM_018082.6(POLR3B):c.1346T>C (p.Leu449Pro) rs2137002042
NM_018082.6(POLR3B):c.1477G>T (p.Val493Phe) rs1396040670
NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys) rs267608683
NM_018082.6(POLR3B):c.1533del (p.Ile511fs) rs267608684
NM_018082.6(POLR3B):c.1579T>C (p.Cys527Arg) rs2137003969
NM_018082.6(POLR3B):c.1788C>A (p.Tyr596Ter) rs2137008757
NM_018082.6(POLR3B):c.1939G>A (p.Glu647Lys) rs755658678
NM_018082.6(POLR3B):c.2083+1G>A rs7133068
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser) rs758867273
NM_018082.6(POLR3B):c.2190del (p.Phe730fs) rs2137027936
NM_018082.6(POLR3B):c.2683G>A (p.Asp895Asn) rs1428989000
NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter) rs267608685
NM_018082.6(POLR3B):c.2707del (p.Gln903fs) rs2137036995
NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu) rs267608689
NM_018082.6(POLR3B):c.303+1G>A rs2036573956
NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe) rs2136887072
NM_018082.6(POLR3B):c.79T>C (p.Trp27Arg) rs2136879253
NM_018082.6(POLR3B):c.802A>G (p.Ser268Gly) rs2136917152
NM_018082.6(POLR3B):c.832_833dup (p.Thr279fs) rs1261509815
NM_018082.6(POLR3B):c.967-15A>G rs764250049

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.