List of variants reported as uncertain significance for POLR3-related leukodystrophy by Illumina Laboratory Services, Illumina

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018082.5(POLR3B):c.-173C>T	rs73186443	0.01232
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	rs199504211	0.00069
NM_007055.4(POLR3A):c.-103T>A	rs117201371	0.00011
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=)	rs576629157	0.00003
NM_018082.6(POLR3B):c.478G>A (p.Glu160Lys)	rs749479456	0.00001
NM_007055.4(POLR3A):c.*1342del	rs56144624
NM_007055.4(POLR3A):c.*1640del	rs886047277
NM_007055.4(POLR3A):c.1771_1780del	rs529607825
NM_007055.4(POLR3A):c.*272G>A	rs2241547
NM_007055.4(POLR3A):c.1771-5del	rs544204280
NM_007055.4(POLR3A):c.318+13G>C	rs757027564
NM_018082.5(POLR3B):c.-186C>A	rs886048895
NM_018082.6(POLR3B):c.1121A>G (p.Glu374Gly)	rs2037451909
NM_018082.6(POLR3B):c.2974G>A (p.Gly992Ser)

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.