List of variants in gene combination LOC126806422, TTN reported as uncertain significance for Early-onset myopathy with fatal cardiomyopathy

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.69716-5C>G	rs72646886	0.00290
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	rs201043950	0.00110
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)	rs372382315	0.00031
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)	rs368867993	0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)	rs370771532	0.00026
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)	rs72646889	0.00011
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)	rs369503828	0.00010
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys)	rs56141309	0.00001
NM_001267550.2(TTN):c.69837T>A (p.His23279Gln)	rs752879532
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro)	rs767208489
NM_001267550.2(TTN):c.70579G>A (p.Val23527Ile)	rs542004766
NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser)	rs886055250

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.