List of variants in gene combination LOC126806426, TTN reported as likely benign for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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

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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=)

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