List of variants reported as benign for Neuronal ceroid lipofuscinosis 1 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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000310.3(PPT1):c.-83A>G	rs6600313	0.84142
NM_000310.4(PPT1):c.*657G>A	rs1126973	0.70032
NM_000310.4(PPT1):c.*285T>G	rs1126970	0.69809
NM_000310.4(PPT1):c.*505C>G	rs1126972	0.69788
NM_000310.4(PPT1):c.*161T>C	rs11552578	0.11358
NM_000310.3(PPT1):c.-109C>A	rs41301070	0.08852
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)	rs1800205	0.04289
NM_000310.4(PPT1):c.*1275G>A	rs12061777	0.03316
NM_000310.4(PPT1):c.837G>C (p.Gln279His)	rs72937434	0.02506
NM_000310.4(PPT1):c.*456A>G	rs76250039	0.01107
NM_000310.4(PPT1):c.*878T>C	rs74638149	0.00984
NM_000310.4(PPT1):c.*3C>A	rs150454815	0.00852
NM_000310.4(PPT1):c.363-4G>A	rs117284255	0.00400

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.