ClinVar Miner

List of variants in gene LOC126806424, TTN studied for autosomal recessive limb-girdle muscular dystrophy type 2J

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028 0.00083
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) rs202206216 0.00012
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) rs750217838 0.00012
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg) rs764259290 0.00011
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.59736T>C (p.Tyr19912=) rs184969946 0.00010
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln) rs374914334 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.59573C>T (p.Thr19858Ile) rs757911359 0.00008
NM_001267550.2(TTN):c.59331A>G (p.Val19777=) rs879087831 0.00007
NM_001267550.2(TTN):c.59341C>T (p.Leu19781Phe) rs555577161 0.00006
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr) rs376465623 0.00006
NM_001267550.2(TTN):c.59707G>C (p.Asp19903His) rs374163882 0.00006
NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu) rs727505345 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly) rs755949982 0.00005
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val) rs1187337182 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys) rs371060708 0.00005
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.59725A>G (p.Ile19909Val) rs1060500484 0.00003
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_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.60062C>T (p.Thr20021Ile) rs760706351 0.00003
NM_001256850.1(TTN):c.54704-10C>T rs775224600 0.00002
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His) rs201457934 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.59827G>A (p.Glu19943Lys) rs751863629 0.00002
NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn) rs148353350 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.60097T>G (p.Leu20033Val) rs878993043 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.59359A>C (p.Ile19787Leu) rs771610118 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.59460G>A (p.Trp19820Ter) rs1250461669 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.59693G>A (p.Trp19898Ter) rs974671846 0.00001
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly) rs1016296280 0.00001
NM_001267550.2(TTN):c.59811C>T (p.Phe19937=) rs781544233 0.00001
NM_001267550.2(TTN):c.59858C>T (p.Ala19953Val) rs754149259 0.00001
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) rs886055258 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.60104G>T (p.Cys20035Phe) rs774488793 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.59340G>C (p.Arg19780Ser) rs1327554085
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.59344G>C (p.Glu19782Gln)
NM_001267550.2(TTN):c.59345-16_59345-12del
NM_001267550.2(TTN):c.59349C>A (p.Pro19783=) rs1576126915
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59367T>C (p.Asp19789=) rs760729655
NM_001267550.2(TTN):c.59380A>C (p.Arg19794=)
NM_001267550.2(TTN):c.59381G>C (p.Arg19794Thr) rs1553647309
NM_001267550.2(TTN):c.59397dup (p.Val19800fs)
NM_001267550.2(TTN):c.59402del (p.Gly19801fs) rs1064793367
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs) rs755261062
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.59451A>C (p.Lys19817Asn) rs1553647180
NM_001267550.2(TTN):c.59451dup (p.Val19818fs)
NM_001267550.2(TTN):c.59458del (p.Trp19820fs)
NM_001267550.2(TTN):c.59466dup (p.Glu19823fs) rs2154185712
NM_001267550.2(TTN):c.59478T>C (p.Asp19826=) rs764950470
NM_001267550.2(TTN):c.59517T>C (p.Gly19839=)
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer) rs1064792914
NM_001267550.2(TTN):c.59535del (p.Asn19846fs) rs1559602980
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser) rs547180437
NM_001267550.2(TTN):c.59570_59571insTTTTTTTTTTNNNNNNNNNNCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCCGGAATTTATTCTTT (p.Leu19857fs) rs2154185645
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.59583_59599dup (p.Thr19867fs) rs2154185625
NM_001267550.2(TTN):c.59589T>C (p.Ala19863=)
NM_001267550.2(TTN):c.59598_59599dup (p.Thr19867fs) rs2154185622
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.59626G>A (p.Asp19876Asn) rs1244294413
NM_001267550.2(TTN):c.59627-17T>C
NM_001267550.2(TTN):c.59627-19G>C
NM_001267550.2(TTN):c.59647G>T (p.Asp19883Tyr) rs1060500395
NM_001267550.2(TTN):c.59647_59648del (p.Asp19883fs) rs878854322
NM_001267550.2(TTN):c.59667T>C (p.Ile19889=)
NM_001267550.2(TTN):c.59670G>A (p.Arg19890=) rs2154185494
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn) rs374163882
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.59730del (p.Asn19911fs)
NM_001267550.2(TTN):c.59739G>T (p.Val19913=) rs1347100360
NM_001267550.2(TTN):c.59763del (p.Ser19921fs) rs1559599859
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
NM_001267550.2(TTN):c.59775A>G (p.Ser19925=)
NM_001267550.2(TTN):c.59790A>G (p.Thr19930=)
NM_001267550.2(TTN):c.59802del (p.Ser19935fs)
NM_001267550.2(TTN):c.59808C>T (p.His19936=)
NM_001267550.2(TTN):c.59820T>C (p.His19940=)
NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter) rs1413760246
NM_001267550.2(TTN):c.59841C>T (p.Tyr19947=)
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
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.59888T>C (p.Val19963Ala) rs1553645836
NM_001267550.2(TTN):c.59889T>G (p.Val19963=)
NM_001267550.2(TTN):c.59903del (p.Pro19968fs) rs2154185335
NM_001267550.2(TTN):c.59906_59924delinsAA (p.Ile19969fs) rs2050313754
NM_001267550.2(TTN):c.59916G>C (p.Leu19972Phe) rs1553645773
NM_001267550.2(TTN):c.59917del (p.Asp19973fs) rs2050315855
NM_001267550.2(TTN):c.59926+10T>C rs2154185308
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.59926+1G>C
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.59965G>C (p.Val19989Leu) rs1021499065
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter) rs2154185221
NM_001267550.2(TTN):c.59997del (p.Asn19999fs) rs2154185219
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)
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.60121C>T (p.Gln20041Ter) rs794729277
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del) rs761360903
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

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