List of variants reported as benign 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 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.8902+14del	rs573000455	0.16798
NM_001267550.2(TTN):c.8902+16del	rs570467105	0.16737
NM_001267550.2(TTN):c.49648+16T>C	rs57677875	0.01831
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)	rs72647875	0.01559
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)	rs6725673	0.01548
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)	rs55948748	0.01336
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	rs68080670	0.01276
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)	rs74321406	0.00774
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)	rs72648927	0.00729
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)	rs116567963	0.00481
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile)	rs189149543	0.00070
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)	rs191482653	0.00057
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)	rs557628408	0.00004
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)	rs397517553	0.00002
NM_001267550.2(TTN):c.67637-9A>G	rs2047164551	0.00001
NM_001267550.2(TTN):c.12780G>A (p.Ala4260=)	rs746578
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)	rs746578
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)	rs55933739

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.