List of variants in gene combination LOC129935183, TTN reported as likely pathogenic for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)	rs886043924	0.00001
NM_001267550.2(TTN):c.105791dup (p.Ser35265fs)	rs1688794902	0.00001
NM_001267550.2(TTN):c.105605_105606del (p.Val35202fs)	rs886043462
NM_001267550.2(TTN):c.105614del (p.Asn35205fs)	rs2154133153
NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)	rs2468390355
NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)	rs2468388434
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)	rs1688812000
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs)	rs1553484602
NM_001267550.2(TTN):c.105898del (p.Ile35300fs)	rs2468380518
NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter)	rs1575219172

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.