List of variants in gene combination LOC126806424, 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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)	rs72646842	0.00091
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)	rs188063446	0.00060
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)	rs367622770	0.00039
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)	rs199512049	0.00031
NM_001267550.2(TTN):c.59344+3G>A	rs142095604	0.00023
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)	rs369476725	0.00010
NM_001267550.2(TTN):c.59573C>T (p.Thr19858Ile)	rs757911359	0.00008
NM_001267550.2(TTN):c.59341C>T (p.Leu19781Phe)	rs555577161	0.00002
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His)	rs201457934	0.00002
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)	rs886055258	0.00001
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=)	rs761455000	0.00001
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del)	rs886055257
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=)	rs1215674180

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.