List of variants in gene combination LOC126806426, TTN reported as likely benign for autosomal recessive disease

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: 81

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)	rs72677243	0.00094
NM_001267550.2(TTN):c.49049-6A>T	rs1012199109	0.00005
NM_001267550.2(TTN):c.49008G>A (p.Val16336=)	rs781078888	0.00004
NM_001267550.2(TTN):c.49049-16G>A	rs369011743	0.00004
NM_001267550.2(TTN):c.49128C>T (p.Arg16376=)	rs779532675	0.00004
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)	rs376188859	0.00004
NM_001267550.2(TTN):c.48915T>A (p.Ile16305=)	rs752761527	0.00003
NM_001267550.2(TTN):c.48987T>C (p.Tyr16329=)	rs773944885	0.00003
NM_001267550.2(TTN):c.48654T>A (p.Gly16218=)	rs1258062795	0.00002
NM_001267550.2(TTN):c.48684C>T (p.Arg16228=)	rs529418633	0.00002
NM_001267550.2(TTN):c.49041C>T (p.Asn16347=)	rs369981635	0.00002
NM_001267550.2(TTN):c.48639-19C>T	rs772336822	0.00001
NM_001267550.2(TTN):c.48760+11T>C	rs759878678	0.00001
NM_001267550.2(TTN):c.48761-14C>T	rs374241606	0.00001
NM_001267550.2(TTN):c.48768A>G (p.Pro16256=)	rs779245098	0.00001
NM_001267550.2(TTN):c.48783T>C (p.Asp16261=)	rs574915586	0.00001
NM_001267550.2(TTN):c.48849C>T (p.Thr16283=)	rs768147224	0.00001
NM_001267550.2(TTN):c.48879A>T (p.Thr16293=)	rs1553703542	0.00001
NM_001267550.2(TTN):c.48933T>C (p.Pro16311=)	rs776249400	0.00001
NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)	rs1057523898	0.00001
NM_001267550.2(TTN):c.49049-20A>G	rs1486812338	0.00001
NM_001267550.2(TTN):c.49119C>T (p.Asn16373=)	rs1576457751	0.00001
NM_001267550.2(TTN):c.49137T>G (p.Gly16379=)	rs372012299	0.00001
NM_001267550.2(TTN):c.49191G>A (p.Val16397=)	rs1248893203	0.00001
NM_001267550.2(TTN):c.49212C>T (p.Thr16404=)	rs749784602	0.00001
NM_001267550.2(TTN):c.49266C>A (p.Ile16422=)	rs1375657505	0.00001
NM_001267550.2(TTN):c.48636A>T (p.Thr16212=)
NM_001267550.2(TTN):c.48638+10T>C
NM_001267550.2(TTN):c.48638+14T>C	rs766412535
NM_001267550.2(TTN):c.48638+19A>C	rs766114993
NM_001267550.2(TTN):c.48638+19A>G
NM_001267550.2(TTN):c.48639-14_48639-13del	rs778189928
NM_001267550.2(TTN):c.48639-18T>C
NM_001267550.2(TTN):c.48657T>C (p.Leu16219=)
NM_001267550.2(TTN):c.48660G>A (p.Glu16220=)
NM_001267550.2(TTN):c.48666C>A (p.Gly16222=)
NM_001267550.2(TTN):c.48681C>T (p.Tyr16227=)
NM_001267550.2(TTN):c.48693C>T (p.Ala16231=)	rs2154202895
NM_001267550.2(TTN):c.48723C>T (p.Ser16241=)
NM_001267550.2(TTN):c.48747T>C (p.Ala16249=)
NM_001267550.2(TTN):c.48750G>A (p.Val16250=)
NM_001267550.2(TTN):c.48753C>T (p.Asp16251=)
NM_001267550.2(TTN):c.48760+13G>T
NM_001267550.2(TTN):c.48760+17T>A	rs932428446
NM_001267550.2(TTN):c.48760+20G>T
NM_001267550.2(TTN):c.48761-15T>C
NM_001267550.2(TTN):c.48761-20A>C
NM_001267550.2(TTN):c.48761-8C>T
NM_001267550.2(TTN):c.48761-9C>T
NM_001267550.2(TTN):c.48765C>T (p.Ala16255=)	rs1038311185
NM_001267550.2(TTN):c.48777C>T (p.Phe16259=)
NM_001267550.2(TTN):c.48780C>G (p.Leu16260=)	rs754126382
NM_001267550.2(TTN):c.48780C>T (p.Leu16260=)	rs754126382
NM_001267550.2(TTN):c.48792C>T (p.Leu16264=)
NM_001267550.2(TTN):c.48810A>G (p.Val16270=)
NM_001267550.2(TTN):c.48819G>A (p.Gly16273=)
NM_001267550.2(TTN):c.48843C>T (p.Thr16281=)	rs547682223
NM_001267550.2(TTN):c.48864T>A (p.Pro16288=)	rs2154201695
NM_001267550.2(TTN):c.48906C>T (p.Asp16302=)
NM_001267550.2(TTN):c.48945A>G (p.Thr16315=)
NM_001267550.2(TTN):c.48969A>G (p.Arg16323=)	rs2154201674
NM_001267550.2(TTN):c.48978T>C (p.Thr16326=)
NM_001267550.2(TTN):c.48978T>G (p.Thr16326=)
NM_001267550.2(TTN):c.49026T>G (p.Ala16342=)
NM_001267550.2(TTN):c.49038G>A (p.Val16346=)
NM_001267550.2(TTN):c.49048+10del
NM_001267550.2(TTN):c.49049-11G>A
NM_001267550.2(TTN):c.49049-8A>G	rs2056900509
NM_001267550.2(TTN):c.49049-8A>T	rs2056900509
NM_001267550.2(TTN):c.49056C>T (p.Pro16352=)
NM_001267550.2(TTN):c.49059A>G (p.Gly16353=)	rs1215673191
NM_001267550.2(TTN):c.49068T>C (p.Ala16356=)	rs2154201612
NM_001267550.2(TTN):c.49122A>G (p.Pro16374=)
NM_001267550.2(TTN):c.49134T>C (p.Asp16378=)	rs2154201598
NM_001267550.2(TTN):c.49140A>T (p.Gly16380=)	rs879110855
NM_001267550.2(TTN):c.49152A>C (p.Thr16384=)	rs754272157
NM_001267550.2(TTN):c.49173A>G (p.Arg16391=)
NM_001267550.2(TTN):c.49203C>T (p.Leu16401=)
NM_001267550.2(TTN):c.49209C>T (p.Ser16403=)	rs771429905
NM_001267550.2(TTN):c.49239C>T (p.Thr16413=)	rs2056862850
NM_001267550.2(TTN):c.49269C>T (p.Phe16423=)

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.