List of variants in gene combination LOC126806428, TTN reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)	rs72648962	0.01709
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)	rs72648960	0.00666
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)	rs114626713	0.00491
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)	rs201394117	0.00042
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)	rs202089818	0.00039
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)	rs372264428	0.00008
NM_001267550.2(TTN):c.21277A>G (p.Thr7093Ala)	rs773883340	0.00002
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)	rs765257439	0.00001
NM_001267550.2(TTN):c.20905T>A (p.Cys6969Ser)	rs368762020
NM_001267550.2(TTN):c.20908A>C (p.Lys6970Gln)
NM_001267550.2(TTN):c.21103G>A (p.Val7035Ile)	rs1553913782
NM_001267550.2(TTN):c.21143G>T (p.Arg7048Leu)	rs148072021

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.