List of variants in gene combination LOC126806424, TTN reported as uncertain significance 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: 34

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)	rs199512049	0.00034
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)	rs202206216	0.00012
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu)	rs750217838	0.00012
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg)	rs764259290	0.00011
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)	rs369476725	0.00010
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)	rs374914334	0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)	rs200455644	0.00009
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)	rs376465623	0.00006
NM_001267550.2(TTN):c.59707G>C (p.Asp19903His)	rs374163882	0.00006
NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu)	rs727505345	0.00006
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)	rs755949982	0.00005
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val)	rs1187337182	0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)	rs727503588	0.00005
NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys)	rs371060708	0.00005
NM_001267550.2(TTN):c.59725A>G (p.Ile19909Val)	rs1060500484	0.00003
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)	rs756091180	0.00003
NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys)	rs751863629	0.00002
NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn)	rs148353350	0.00002
NM_001267550.2(TTN):c.60097T>G (p.Leu20033Val)	rs878993043	0.00002
NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu)	rs771610118	0.00001
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly)	rs1016296280	0.00001
NM_001267550.2(TTN):c.59858C>T (p.Ala19953Val)	rs754149259	0.00001
NM_001267550.2(TTN):c.60062C>T (p.Thr20021Ile)	rs760706351	0.00001
NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe)	rs774488793	0.00001
NM_001267550.2(TTN):c.59340G>C (p.Arg19780Ser)	rs1327554085
NM_001267550.2(TTN):c.59344G>C (p.Glu19782Gln)
NM_001267550.2(TTN):c.59381G>C (p.Arg19794Thr)	rs1553647309
NM_001267550.2(TTN):c.59451A>C (p.Lys19817Asn)	rs1553647180
NM_001267550.2(TTN):c.59626G>A (p.Asp19876Asn)	rs1244294413
NM_001267550.2(TTN):c.59647G>T (p.Asp19883Tyr)	rs1060500395
NM_001267550.2(TTN):c.59888T>C (p.Val19963Ala)	rs1553645836
NM_001267550.2(TTN):c.59916G>C (p.Leu19972Phe)	rs1553645773
NM_001267550.2(TTN):c.59965G>C (p.Val19989Leu)	rs1021499065
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del)	rs761360903

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.