List of variants in gene combination LOC126806424, 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: 104

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)	rs371719028	0.00083
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)	rs367622770	0.00039
NM_001267550.2(TTN):c.59344+3G>A	rs142095604	0.00023
NM_001267550.2(TTN):c.59736T>C (p.Tyr19912=)	rs184969946	0.00011
NM_001267550.2(TTN):c.59331A>G (p.Val19777=)	rs879087831	0.00007
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)	rs767152563	0.00006
NM_001267550.2(TTN):c.60138T>C (p.Tyr20046=)	rs1215527173	0.00004
NC_000002.12:g.178592287G>A	rs775224600	0.00003
NM_001267550.2(TTN):c.59859G>A (p.Ala19953=)	rs759120495	0.00003
NM_001267550.2(TTN):c.59926+13C>T	rs754345312	0.00003
NM_001267550.2(TTN):c.59927-19T>A	rs772730956	0.00003
NM_001267550.2(TTN):c.59946G>A (p.Lys19982=)	rs772284158	0.00003
NM_001267550.2(TTN):c.59345-13C>T	rs761986550	0.00002
NM_001267550.2(TTN):c.59763C>T (p.Ser19921=)	rs1161679210	0.00002
NM_001267550.2(TTN):c.59927-11T>A	rs555554134	0.00002
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)	rs727505101	0.00002
NM_001267550.2(TTN):c.60003G>A (p.Pro20001=)	rs753118050	0.00002
NM_001267550.2(TTN):c.59337C>T (p.Asp19779=)	rs772475819	0.00001
NM_001267550.2(TTN):c.59344+15C>G	rs1397236237	0.00001
NM_001267550.2(TTN):c.59352T>C (p.Pro19784=)	rs1377168112	0.00001
NM_001267550.2(TTN):c.59439G>A (p.Val19813=)	rs910964285	0.00001
NM_001267550.2(TTN):c.59445C>T (p.Phe19815=)	rs1328852709	0.00001
NM_001267550.2(TTN):c.59448A>G (p.Pro19816=)	rs370606774	0.00001
NM_001267550.2(TTN):c.59484A>G (p.Pro19828=)	rs2469534567	0.00001
NM_001267550.2(TTN):c.59502T>C (p.Asp19834=)	rs972823319	0.00001
NM_001267550.2(TTN):c.59535T>G (p.Arg19845=)	rs370227467	0.00001
NM_001267550.2(TTN):c.59626+10T>G	rs1576122744	0.00001
NM_001267550.2(TTN):c.59626+13C>A	rs1314695185	0.00001
NM_001267550.2(TTN):c.59627-17T>C	rs573407541	0.00001
NM_001267550.2(TTN):c.59634T>C (p.Pro19878=)	rs529488909	0.00001
NM_001267550.2(TTN):c.59685C>T (p.Tyr19895=)	rs397517644	0.00001
NM_001267550.2(TTN):c.59811C>T (p.Phe19937=)	rs781544233	0.00001
NM_001267550.2(TTN):c.59862G>A (p.Glu19954=)	rs770333350	0.00001
NM_001267550.2(TTN):c.59927-13C>A	rs1291518491	0.00001
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=)	rs368279024	0.00001
NM_001267550.2(TTN):c.60030T>C (p.Thr20010=)	rs1576111545	0.00001
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=)	rs761455000	0.00001
NM_001267550.2(TTN):c.60162C>T (p.Asn20054=)	rs1420320976	0.00001
NM_001267550.2(TTN):c.60180C>G (p.Leu20060=)	rs876657610	0.00001
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=)	rs990501984	0.00001
NM_001267550.2(TTN):c.59328A>G (p.Leu19776=)
NM_001267550.2(TTN):c.59344+10A>G	rs2050503370
NM_001267550.2(TTN):c.59344+11T>C	rs2154185854
NM_001267550.2(TTN):c.59344+13C>T
NM_001267550.2(TTN):c.59344+7A>T	rs2050505204
NM_001267550.2(TTN):c.59345-11C>G
NM_001267550.2(TTN):c.59345-16_59345-12del	rs2050477458
NM_001267550.2(TTN):c.59349C>A (p.Pro19783=)	rs1576126915
NM_001267550.2(TTN):c.59367T>C (p.Asp19789=)	rs760729655
NM_001267550.2(TTN):c.59380A>C (p.Arg19794=)	rs2469539501
NM_001267550.2(TTN):c.59409T>G (p.Thr19803=)
NM_001267550.2(TTN):c.59412A>G (p.Leu19804=)	rs2469537832
NM_001267550.2(TTN):c.59418T>C (p.Leu19806=)	rs1576125620
NM_001267550.2(TTN):c.59421T>C (p.Ser19807=)	rs2050455821
NM_001267550.2(TTN):c.59439G>C (p.Val19813=)	rs910964285
NM_001267550.2(TTN):c.59439G>T (p.Val19813=)
NM_001267550.2(TTN):c.59478T>C (p.Asp19826=)	rs764950470
NM_001267550.2(TTN):c.59499T>A (p.Ile19833=)
NM_001267550.2(TTN):c.59517T>C (p.Gly19839=)	rs2469533425
NM_001267550.2(TTN):c.59547T>C (p.His19849=)
NM_001267550.2(TTN):c.59574A>G (p.Thr19858=)	rs745752737
NM_001267550.2(TTN):c.59580G>A (p.Glu19860=)	rs757011726
NM_001267550.2(TTN):c.59583T>C (p.Asn19861=)	rs2154185637
NM_001267550.2(TTN):c.59589T>C (p.Ala19863=)	rs2469530980
NM_001267550.2(TTN):c.59601T>C (p.Thr19867=)
NM_001267550.2(TTN):c.59604C>G (p.Val19868=)	rs2154185619
NM_001267550.2(TTN):c.59626+11T>C
NM_001267550.2(TTN):c.59626+7del	rs766734794
NM_001267550.2(TTN):c.59627-15T>C
NM_001267550.2(TTN):c.59627-19G>C	rs2469522027
NM_001267550.2(TTN):c.59667T>C (p.Ile19889=)	rs2469519248
NM_001267550.2(TTN):c.59670G>A (p.Arg19890=)	rs2154185494
NM_001267550.2(TTN):c.59724T>C (p.Val19908=)	rs2154185451
NM_001267550.2(TTN):c.59730C>T (p.Thr19910=)	rs1576118852
NM_001267550.2(TTN):c.59739G>T (p.Val19913=)	rs1347100360
NM_001267550.2(TTN):c.59775A>G (p.Ser19925=)	rs2469512734
NM_001267550.2(TTN):c.59790A>G (p.Thr19930=)	rs1466996929
NM_001267550.2(TTN):c.59805T>C (p.Ser19935=)
NM_001267550.2(TTN):c.59808C>T (p.His19936=)	rs2469511548
NM_001267550.2(TTN):c.59820T>C (p.His19940=)	rs1559599178
NM_001267550.2(TTN):c.59841C>T (p.Tyr19947=)	rs1413760246
NM_001267550.2(TTN):c.59847C>T (p.Phe19949=)
NM_001267550.2(TTN):c.59853A>G (p.Val19951=)	rs2469509144
NM_001267550.2(TTN):c.59859G>C (p.Ala19953=)	rs759120495
NM_001267550.2(TTN):c.59871T>C (p.Tyr19957=)
NM_001267550.2(TTN):c.59880T>A (p.Gly19960=)	rs2154185348
NM_001267550.2(TTN):c.59880T>G (p.Gly19960=)
NM_001267550.2(TTN):c.59889T>G (p.Val19963=)	rs2469507421
NM_001267550.2(TTN):c.59926+10T>C	rs2154185308
NM_001267550.2(TTN):c.59927-10C>T	rs1559597189
NM_001267550.2(TTN):c.59927-14T>G	rs761777534
NM_001267550.2(TTN):c.59927-15T>C	rs764686070
NM_001267550.2(TTN):c.59927-16C>G	rs1354220204
NM_001267550.2(TTN):c.59927-16CTT[2]	rs1338225091
NM_001267550.2(TTN):c.59927-18A>C	rs2469500414
NM_001267550.2(TTN):c.59927-19T>C	rs772730956
NM_001267550.2(TTN):c.59934A>G (p.Pro19978=)	rs2154185249
NM_001267550.2(TTN):c.59937G>T (p.Gly19979=)	rs727505101
NM_001267550.2(TTN):c.59943C>T (p.Pro19981=)	rs202017608
NM_001267550.2(TTN):c.60000G>A (p.Lys20000=)
NM_001267550.2(TTN):c.60066G>A (p.Gln20022=)	rs878867252
NM_001267550.2(TTN):c.60120A>G (p.Leu20040=)	rs878854323
NM_001267550.2(TTN):c.60129A>G (p.Gly20043=)	rs941127366
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=)	rs1215674180

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