ClinVar Miner

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:
Gene type:
ClinVar version:
Total variants: 88
Download table as spreadsheet
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 0.00010
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.59345-13C>T rs761986550 0.00004
NM_001267550.2(TTN):c.59926+13C>T rs754345312 0.00004
NM_001267550.2(TTN):c.60138T>C (p.Tyr20046=) rs1215527173 0.00004
NM_001267550.2(TTN):c.59859G>A (p.Ala19953=) rs759120495 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_001256850.1(TTN):c.54704-10C>T rs775224600 0.00002
NM_001267550.2(TTN):c.59634T>C (p.Pro19878=) rs529488909 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.59352T>C (p.Pro19784=) rs1377168112 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.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.59685C>T (p.Tyr19895=) rs397517644 0.00001
NM_001267550.2(TTN):c.59811C>T (p.Phe19937=) rs781544233 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.60180C>G (p.Leu20060=) rs876657610 0.00001
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=) rs990501984 0.00001
NM_001267550.2(TTN):c.59344+10A>G
NM_001267550.2(TTN):c.59344+11T>C rs2154185854
NM_001267550.2(TTN):c.59344+15C>G
NM_001267550.2(TTN):c.59344+7A>T
NM_001267550.2(TTN):c.59345-16_59345-12del
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=)
NM_001267550.2(TTN):c.59412A>G (p.Leu19804=)
NM_001267550.2(TTN):c.59418T>C (p.Leu19806=) rs1576125620
NM_001267550.2(TTN):c.59421T>C (p.Ser19807=)
NM_001267550.2(TTN):c.59439G>A (p.Val19813=)
NM_001267550.2(TTN):c.59439G>C (p.Val19813=)
NM_001267550.2(TTN):c.59478T>C (p.Asp19826=) rs764950470
NM_001267550.2(TTN):c.59517T>C (p.Gly19839=)
NM_001267550.2(TTN):c.59574A>G (p.Thr19858=)
NM_001267550.2(TTN):c.59580G>A (p.Glu19860=)
NM_001267550.2(TTN):c.59583T>C (p.Asn19861=) rs2154185637
NM_001267550.2(TTN):c.59589T>C (p.Ala19863=)
NM_001267550.2(TTN):c.59604C>G (p.Val19868=) rs2154185619
NM_001267550.2(TTN):c.59626+13C>A
NM_001267550.2(TTN):c.59626+7del rs766734794
NM_001267550.2(TTN):c.59627-17T>C
NM_001267550.2(TTN):c.59627-19G>C
NM_001267550.2(TTN):c.59667T>C (p.Ile19889=)
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=)
NM_001267550.2(TTN):c.59790A>G (p.Thr19930=)
NM_001267550.2(TTN):c.59808C>T (p.His19936=)
NM_001267550.2(TTN):c.59820T>C (p.His19940=)
NM_001267550.2(TTN):c.59841C>T (p.Tyr19947=)
NM_001267550.2(TTN):c.59853A>G (p.Val19951=)
NM_001267550.2(TTN):c.59859G>C (p.Ala19953=) rs759120495
NM_001267550.2(TTN):c.59862G>A (p.Glu19954=)
NM_001267550.2(TTN):c.59880T>A (p.Gly19960=) rs2154185348
NM_001267550.2(TTN):c.59889T>G (p.Val19963=)
NM_001267550.2(TTN):c.59926+10T>C rs2154185308
NM_001267550.2(TTN):c.59927-10C>T rs1559597189
NM_001267550.2(TTN):c.59927-13C>A
NM_001267550.2(TTN):c.59927-14T>G
NM_001267550.2(TTN):c.59927-15T>C rs764686070
NM_001267550.2(TTN):c.59927-16C>G
NM_001267550.2(TTN):c.59927-16CTT[2] rs1338225091
NM_001267550.2(TTN):c.59927-18A>C
NM_001267550.2(TTN):c.59927-19T>C
NM_001267550.2(TTN):c.59934A>G (p.Pro19978=) rs2154185249
NM_001267550.2(TTN):c.59937G>T (p.Gly19979=)
NM_001267550.2(TTN):c.59943C>T (p.Pro19981=)
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.60162C>T (p.Asn20054=)
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=) rs1215674180

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.