ClinVar Miner

List of variants in gene POLR3A studied for POLR3A-related disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00565
NM_007055.4(POLR3A):c.741G>A (p.Pro247=) rs12764690 0.00484
NM_007055.4(POLR3A):c.927C>T (p.Asp309=) rs41274610 0.00287
NM_007055.4(POLR3A):c.2196C>T (p.Asn732=) rs148527796 0.00231
NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln) rs143422889 0.00184
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.1227A>G (p.Gln409=) rs144892779 0.00122
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) rs41274600 0.00083
NM_007055.4(POLR3A):c.1729G>A (p.Glu577Lys) rs151084236 0.00031
NM_007055.4(POLR3A):c.3891+9G>A rs377678004 0.00022
NM_007055.4(POLR3A):c.1311A>G (p.Arg437=) rs188441842 0.00014
NM_007055.4(POLR3A):c.3822C>T (p.Thr1274=) rs149961298 0.00010
NM_007055.4(POLR3A):c.3646G>A (p.Glu1216Lys) rs143679064 0.00006
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_007055.4(POLR3A):c.774T>C (p.Pro258=) rs144576999 0.00004
NM_007055.4(POLR3A):c.1110G>A (p.Ser370=) rs779006717 0.00003
NM_007055.4(POLR3A):c.1716G>T (p.Leu572=) rs199523517 0.00001
NM_007055.4(POLR3A):c.1909+20G>A rs1189488542 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.2031A>G (p.Ala677=) rs562035665 0.00001
NM_007055.4(POLR3A):c.2559C>T (p.Ala853=) rs200663916 0.00001
NM_007055.4(POLR3A):c.2710G>T (p.Gly904Ter) rs748548960 0.00001
NM_007055.4(POLR3A):c.3561C>T (p.Tyr1187=) rs761661211 0.00001
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) rs757209071 0.00001
NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter) rs1564624254
NM_007055.4(POLR3A):c.1572+1297_1572+1304del rs761867573
NM_007055.4(POLR3A):c.1611G>T (p.Pro537=) rs757260872
NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter) rs1472614573
NM_007055.4(POLR3A):c.1771-11dup rs544204280
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1791A>G (p.Gly597=) rs374732894
NM_007055.4(POLR3A):c.1862G>A (p.Gly621Asp) rs757718124
NM_007055.4(POLR3A):c.2085T>C (p.Gly695=) rs2493213200
NM_007055.4(POLR3A):c.2113C>G (p.Pro705Ala) rs2493213156
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) rs267608679
NM_007055.4(POLR3A):c.2577C>T (p.Val859=) rs142657005
NM_007055.4(POLR3A):c.2747del (p.Asp916fs)
NM_007055.4(POLR3A):c.2913dup (p.Phe972fs) rs772904218
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) rs747683665
NM_007055.4(POLR3A):c.4083G>A (p.Lys1361=) rs1847101523

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.