List of variants in gene CLN3 reported as benign for cerebral lipidosis with dementia

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

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)	rs77595156	0.11421
NM_001042432.2(CLN3):c.*99C>T	rs113845299	0.00853
NM_001042432.2(CLN3):c.771G>A (p.Glu257=)	rs73533466	0.00402
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val)	rs11552531	0.00312
NM_001042432.2(CLN3):c.318C>T (p.Leu106=)	rs148248159	0.00115
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)	rs145967477	0.00103
NM_001042432.2(CLN3):c.790+16C>A	rs200731769	0.00023
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)	rs201824641	0.00022
NM_001042432.2(CLN3):c.240G>A (p.Thr80=)	rs373911322	0.00002
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)	rs146610181
NM_001042432.2(CLN3):c.270T>C (p.Phe90=)	rs145520962
NM_001042432.2(CLN3):c.375-5del
NM_001042432.2(CLN3):c.375-5dup
NM_001042432.2(CLN3):c.461-3del	rs766754807
NM_001042432.2(CLN3):c.461-3dup
NM_001042432.2(CLN3):c.790+3A>C	rs386833738

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.