List of variants reported as likely benign for POLR3A-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val)	rs146253630	0.00565
NM_007055.4(POLR3A):c.927C>T (p.Asp309=)	rs41274610	0.00287
NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln)	rs143422889	0.00184
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.3264G>A (p.Gln1088=)	rs142769100	0.00021
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.774T>C (p.Pro258=)	rs144576999	0.00004
NM_007055.4(POLR3A):c.1110G>A (p.Ser370=)	rs779006717	0.00003
NM_007055.4(POLR3A):c.3285G>A (p.Ala1095=)	rs372155738	0.00002
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.2031A>G (p.Ala677=)	rs562035665	0.00001
NM_007055.4(POLR3A):c.2559C>T (p.Ala853=)	rs200663916	0.00001
NM_007055.4(POLR3A):c.3282C>T (p.Asp1094=)	rs557203539	0.00001
NM_007055.4(POLR3A):c.3561C>T (p.Tyr1187=)	rs761661211	0.00001
NM_007055.4(POLR3A):c.1611G>T (p.Pro537=)	rs757260872
NM_007055.4(POLR3A):c.1771-11dup	rs544204280
NM_007055.4(POLR3A):c.1791A>G (p.Gly597=)	rs374732894
NM_007055.4(POLR3A):c.2085T>C (p.Gly695=)	rs2493213200
NM_007055.4(POLR3A):c.2577C>T (p.Val859=)	rs142657005
NM_007055.4(POLR3A):c.399C>T (p.Gly133=)	rs927423608
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.