List of variants in gene combination LOC126806429, TTN reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)	rs16866475	0.01294
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)	rs28626194	0.00641
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)	rs116572520	0.00188
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)	rs146627500	0.00104
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)	rs202108224	0.00081
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=)	rs373842558	0.00079
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)	rs751902051	0.00003
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)	rs397517492	0.00003
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)	rs747240394	0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)	rs397517493	0.00003
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)	rs727504776	0.00001
NM_001267550.2(TTN):c.19914T>C (p.Ala6638=)	rs1317197263
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=)	rs535793314
NM_001267550.2(TTN):c.20260A>G (p.Lys6754Glu)	rs397517494
NM_001267550.2(TTN):c.20263G>C (p.Val6755Leu)	rs876657599

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.