List of variants in gene NHLRC1 reported as benign for Lafora disease

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_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)	rs10949483	0.35277
NM_198586.3(NHLRC1):c.312T>C (p.His104=)	rs115931931	0.10897
NM_198586.3(NHLRC1):c.*621T>A	rs10949481	0.08640
NM_198586.3(NHLRC1):c.*336G>A	rs10949482	0.06634
NM_198586.3(NHLRC1):c.*626C>T	rs10949480	0.06100
NM_198586.3(NHLRC1):c.*276G>C	rs11966748	0.01453
NM_198586.3(NHLRC1):c.*237T>C	rs73379118	0.01438
NM_198586.3(NHLRC1):c.*85T>A	rs73379121	0.01436
NM_198586.3(NHLRC1):c.*344A>T	rs147528518	0.00614
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)	rs187783545	0.00443
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)	rs139029314	0.00176
NM_198586.3(NHLRC1):c.*886G>A	rs146342540	0.00155
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)	rs142941035	0.00022
NM_198586.3(NHLRC1):c.504G>T (p.Gly168=)	rs529490452	0.00001
NM_198586.3(NHLRC1):c.*482C>G	rs114713758
NM_198586.3(NHLRC1):c.*55G>C	rs11966789

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.