List of variants in gene combination LOC126806425, TTN reported as likely benign for not provided

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: 30

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)	rs73036398	0.02352
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)	rs2303831	0.02082
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)	rs2303832	0.02072
NM_001267550.2(TTN):c.52706-17A>G	rs72646807	0.01524
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)	rs72646809	0.01131
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)	rs72646808	0.00118
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)	rs201213901	0.00115
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)	rs200387466	0.00074
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)	rs185913848	0.00039
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)	rs199615557	0.00034
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp)	rs375944265	0.00031
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)	rs202200861	0.00028
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)	rs368820294	0.00019
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)	rs371538664	0.00016
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)	rs377571654	0.00011
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)	rs373316165	0.00007
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)	rs771792080	0.00006
NM_001267550.2(TTN):c.52659A>G (p.Gly17553=)	rs779828473	0.00004
NM_001267550.2(TTN):c.52863G>A (p.Glu17621=)	rs368606067	0.00004
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=)	rs373140387	0.00003
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)	rs749312983	0.00002
NM_001267550.2(TTN):c.52947C>T (p.Ala17649=)	rs766991039	0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)	rs535008556	0.00001
NM_001267550.2(TTN):c.52959A>T (p.Gly17653=)	rs1312206980	0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)	rs397517612	0.00001
NM_001267550.2(TTN):c.52485A>G (p.Lys17495=)	rs1576374681
NM_001267550.2(TTN):c.52542A>G (p.Thr17514=)	rs1576373618
NM_001267550.2(TTN):c.52878C>T (p.Val17626=)	rs775005179
NM_001267550.2(TTN):c.53150G>A (p.Arg17717His)	rs757018821
NM_001267550.2(TTN):c.53300C>T (p.Pro17767Leu)	rs1465233091

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.