List of variants in gene LOC126806426, TTN studied 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
		ClinVar version:

Total variants: 131

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)	rs72677244	0.03561
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)	rs72677242	0.00641
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)	rs72677243	0.00094
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)	rs201793958	0.00034
NM_001267550.2(TTN):c.49200G>A (p.Lys16400=)	rs539513077	0.00028
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)	rs200944827	0.00013
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)	rs368806005	0.00012
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val)	rs199768159	0.00009
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met)	rs541384076	0.00008
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn)	rs199954570	0.00006
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr)	rs372911542	0.00006
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.49129G>A (p.Asp16377Asn)	rs757542062	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.48983C>T (p.Thr16328Ile)	rs770839243	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.48842C>T (p.Thr16281Ile)	rs1553703631	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.48891G>A (p.Met16297Ile)	rs754110019	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.49016G>A (p.Arg16339Gln)	rs558487304	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.49258G>A (p.Glu16420Lys)	rs764682084	0.00001
NM_001267550.2(TTN):c.49266C>A (p.Ile16422=)	rs1375657505	0.00001
NM_001267550.2(TTN):c.48629del (p.Ala16210fs)	rs2057135958
NM_001267550.2(TTN):c.48634del (p.Thr16212fs)	rs2154205763
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.48638+5G>T	rs397517594
NM_001267550.2(TTN):c.48638+5del	rs2057135287
NM_001267550.2(TTN):c.48639-14_48639-13del	rs778189928
NM_001267550.2(TTN):c.48639-18T>C
NM_001267550.2(TTN):c.48639-3C>A	rs923663993
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.48668A>C (p.Lys16223Thr)	rs1553704101
NM_001267550.2(TTN):c.48681C>T (p.Tyr16227=)
NM_001267550.2(TTN):c.48693C>T (p.Ala16231=)	rs2154202895
NM_001267550.2(TTN):c.48698dup (p.Asn16233fs)	rs2057026455
NM_001267550.2(TTN):c.48723C>T (p.Ser16241=)
NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr)	rs72677242
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.48759del (p.Glu16254fs)	rs2057015875
NM_001267550.2(TTN):c.48760+13G>T
NM_001267550.2(TTN):c.48760+17T>A	rs932428446
NM_001267550.2(TTN):c.48760+1G>A
NM_001267550.2(TTN):c.48760+1G>C
NM_001267550.2(TTN):c.48760+1G>T
NM_001267550.2(TTN):c.48760+20G>T
NM_001267550.2(TTN):c.48760+2T>C
NM_001267550.2(TTN):c.48760G>C (p.Glu16254Gln)
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
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.48767dup (p.Glu16257fs)
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.48808_48809del (p.Val16270fs)
NM_001267550.2(TTN):c.48810A>G (p.Val16270=)
NM_001267550.2(TTN):c.48819G>A (p.Gly16273=)
NM_001267550.2(TTN):c.48832del (p.Leu16278fs)
NM_001267550.2(TTN):c.48843C>T (p.Thr16281=)	rs547682223
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)	rs368527534
NM_001267550.2(TTN):c.48862C>T (p.Pro16288Ser)	rs894986526
NM_001267550.2(TTN):c.48864T>A (p.Pro16288=)	rs2154201695
NM_001267550.2(TTN):c.48906C>T (p.Asp16302=)
NM_001267550.2(TTN):c.48913_48916dup (p.Thr16306fs)
NM_001267550.2(TTN):c.48945A>G (p.Thr16315=)
NM_001267550.2(TTN):c.48969A>G (p.Arg16323=)	rs2154201674
NM_001267550.2(TTN):c.48971G>T (p.Ser16324Ile)	rs878948684
NM_001267550.2(TTN):c.48978T>C (p.Thr16326=)
NM_001267550.2(TTN):c.48978T>G (p.Thr16326=)
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs)	rs1576461647
NM_001267550.2(TTN):c.49011_49012del (p.Cys16337fs)
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.49048+1G>A
NM_001267550.2(TTN):c.49048+4A>G	rs766931932
NM_001267550.2(TTN):c.49049-11G>A
NM_001267550.2(TTN):c.49049-1G>C	rs868064056
NM_001267550.2(TTN):c.49049-2A>C
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.49101_49102del (p.Cys16368fs)	rs1576457869
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.49171C>T (p.Arg16391Ter)	rs570046043
NM_001267550.2(TTN):c.49173A>G (p.Arg16391=)
NM_001267550.2(TTN):c.49174G>A (p.Ala16392Thr)	rs794729446
NM_001267550.2(TTN):c.49175C>A (p.Ala16392Glu)	rs750310775
NM_001267550.2(TTN):c.49187_49191dup (p.Trp16398fs)
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.49241A>G (p.Lys16414Arg)	rs1329659749
NM_001267550.2(TTN):c.49269C>T (p.Phe16423=)

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