ClinVar Miner

List of variants in gene TNNI3 reported as benign for cardiomyopathy, familial restrictive, 1

Included ClinVar conditions (5):

Cardiomyopathy, familial restrictive, 1
Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7
Cardiomyopathy, familial restrictive, 1; Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement
Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Hypertrophic cardiomyopathy 7

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000363.5(TNNI3):c.198G>A (p.Glu66=)	rs3729710	0.03372
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)	rs77615401	0.00699
NM_000363.5(TNNI3):c.109-17C>A	rs139150276	0.00147

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.