List of variants in gene LOC101927055, TTN studied for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)	rs72647875	0.01559
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu)	rs576593161	0.00010
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys)	rs146241078	0.00005
NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp)	rs751606948	0.00003
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr)	rs373988162	0.00002
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys)	rs748755381	0.00001
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=)	rs755784209	0.00001
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu)	rs144011561	0.00001
NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys)	rs1018666766	0.00001
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=)	rs764817754	0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)	rs145957227	0.00001
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser)	rs1012905833	0.00001
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser)	rs772479207
NM_001267550.2(TTN):c.4814+9G>C	rs768137657

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.