List of variants reported as benign for Spinocerebellar ataxia type 27

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004115.4(FGF14):c.*1612G>T	rs1046197	0.28765
NM_004115.4(FGF14):c.*471A>C	rs75498912	0.02130
NM_004115.4(FGF14):c.*1063G>A	rs58555898	0.01834
NM_004115.4(FGF14):c.481T>C (p.Leu161=)	rs77082831	0.01311
NM_004115.4(FGF14):c.*31G>A	rs149661933	0.01007
NM_004115.4(FGF14):c.*744C>A	rs79379700	0.00714
NM_004115.4(FGF14):c.*554G>A	rs141793298	0.00557
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys)	rs141304687	0.00191
NM_004115.4(FGF14):c.636T>C (p.His212=)	rs41281644	0.00149
NM_004115.4(FGF14):c.*176C>G	rs191705440	0.00039
NM_004115.4(FGF14):c.*567G>C	rs546536488	0.00007
NM_004115.4(FGF14):c.608-10C>T	rs574476283	0.00001
NM_004115.4(FGF14):c.*1618T>A	rs15608
NM_004115.4(FGF14):c.468C>T (p.Ile156=)	rs558694053
NM_004115.4(FGF14):c.693G>A (p.Ala231=)	rs34397704

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.