List of variants reported as benign for Spinocerebellar ataxia type 23 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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024411.5(PDYN):c.*1030C>T	rs2235749	0.36165
NM_024411.5(PDYN):c.*743T>C	rs910080	0.35005
NM_024411.5(PDYN):c.600T>C (p.His200=)	rs6045819	0.16142
NM_024411.5(PDYN):c.*656T>C	rs10485703	0.12279
NM_024411.5(PDYN):c.*369A>G	rs73894108	0.02261
NM_024411.5(PDYN):c.*556C>T	rs73571349	0.02074
NM_024411.5(PDYN):c.*138A>G	rs111525766	0.01924
NM_024411.5(PDYN):c.*1396C>T	rs6106013	0.01038
NM_024411.5(PDYN):c.*1029A>G	rs115095625	0.00982
NM_024411.5(PDYN):c.*356T>C	rs114429882	0.00768
NM_024411.5(PDYN):c.575A>T (p.Glu192Val)	rs45469293	0.00742
NM_024411.5(PDYN):c.436A>C (p.Met146Leu)	rs77155664	0.00698
NM_024411.5(PDYN):c.*1443G>A	rs148395893	0.00643
NM_024411.5(PDYN):c.*836C>G	rs80315813	0.00016
NM_024411.5(PDYN):c.*78A>G	rs537887207	0.00009
NM_024411.5(PDYN):c.*1457C>G	rs529380614	0.00006
NM_024411.5(PDYN):c.*225T>C	rs569014510	0.00006
NM_024411.5(PDYN):c.*1394C>A	rs112661575
NM_024411.5(PDYN):c.*771T>C	rs910079

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.