ClinVar Miner

List of variants in gene TTN reported as likely benign for Limb-Girdle Muscular Dystrophy, Recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 230
Download table as spreadsheet
HGVS dbSNP
NM_001256850.1(TTN):c.1537-4G>A rs56006378
NM_001256850.1(TTN):c.31442-12A>G rs16866434
NM_001256850.1(TTN):c.43537+8C>T rs2288565
NM_001256850.1(TTN):c.53503G>A (p.Val17835Ile) rs397517636
NM_001256850.1(TTN):c.76635T>C (p.Asn25545=) rs56181243
NM_001256850.1(TTN):c.99846A>C (p.Thr33282=) rs56375087
NM_001267550.2(TTN):c.100766-10T>C rs202214630
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673
NM_001267550.2(TTN):c.17741-9A>G rs72648944
NM_001267550.2(TTN):c.30512-10dup rs397517532
NM_001267550.2(TTN):c.33340+10T>C rs72650039
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798
NM_003319.4(TTN):c.13282+4410G>A rs72648932
NM_133378.4(TTN):c.*664G>T rs72629796
NM_133378.4(TTN):c.*6C>A rs188728343
NM_133378.4(TTN):c.*99dupA rs11424072
NM_133378.4(TTN):c.-108G>A rs13422986
NM_133378.4(TTN):c.10256G>A (p.Ser3419Asn) rs2291310
NM_133378.4(TTN):c.1068G>A (p.Glu356=) rs144716589
NM_133378.4(TTN):c.10793G>A (p.Arg3598Lys) rs2742347
NM_133378.4(TTN):c.1079G>C (p.Arg360Thr) rs56128843
NM_133378.4(TTN):c.10878C>T (p.Ser3626=) rs2742348
NM_133378.4(TTN):c.11033G>A (p.Ser3678Asn) rs184740744
NM_133378.4(TTN):c.11252C>G (p.Pro3751Arg) rs72648927
NM_133378.4(TTN):c.11446G>A (p.Val3816Ile) rs72648929
NM_133378.4(TTN):c.12363C>T (p.Asn4121=) rs72648935
NM_133378.4(TTN):c.12797A>G (p.Tyr4266Cys) rs72648939
NM_133378.4(TTN):c.1398+8C>T rs72647848
NM_133378.4(TTN):c.14658A>T (p.Thr4886=) rs66523653
NM_133378.4(TTN):c.1492G>A (p.Val498Ile) rs72647851
NM_133378.4(TTN):c.15272A>G (p.Asp5091Gly) rs72648951
NM_133378.4(TTN):c.15569G>A (p.Ser5190Asn) rs11888217
NM_133378.4(TTN):c.17129C>T (p.Ala5710Val) rs17355446
NM_133378.4(TTN):c.17312C>T (p.Ala5771Val) rs72648960
NM_133378.4(TTN):c.17374G>A (p.Asp5792Asn) rs72648962
NM_133378.4(TTN):c.178G>T (p.Asp60Tyr) rs35683768
NM_133378.4(TTN):c.18047C>A (p.Ser6016Tyr) rs187925021
NM_133378.4(TTN):c.18348T>C (p.Asp6116=) rs16866473
NM_133378.4(TTN):c.18879T>C (p.His6293=) rs16866469
NM_133378.4(TTN):c.19054G>C (p.Asp6352His) rs72648970
NM_133378.4(TTN):c.19367-3T>C rs2562830
NM_133378.4(TTN):c.19445C>T (p.Ser6482Leu) rs17452588
NM_133378.4(TTN):c.19491G>A (p.Gln6497=) rs2562831
NM_133378.4(TTN):c.20495-15C>T rs397517505
NM_133378.4(TTN):c.20784C>T (p.Thr6928=) rs72648978
NM_133378.4(TTN):c.21148A>G (p.Arg7050Gly) rs72648982
NM_133378.4(TTN):c.21177G>A (p.Lys7059=) rs72648983
NM_133378.4(TTN):c.21666T>A (p.Asp7222Glu) rs72648986
NM_133378.4(TTN):c.21894G>T (p.Gln7298His) rs2562832
NM_133378.4(TTN):c.21975T>C (p.Tyr7325=) rs2742329
NM_133378.4(TTN):c.22189+10C>T rs10183237
NM_133378.4(TTN):c.22359A>T (p.Leu7453=) rs2562836
NM_133378.4(TTN):c.22513G>A (p.Val7505Ile) rs16866457
NM_133378.4(TTN):c.22557A>G (p.Glu7519=) rs2562838
NM_133378.4(TTN):c.22676A>G (p.Asn7559Ser) rs12693164
NM_133378.4(TTN):c.22923C>T (p.Ser7641=) rs2562839
NM_133378.4(TTN):c.22949C>T (p.Pro7650Leu) rs13398235
NM_133378.4(TTN):c.23030-14_23030-10dupTTTGT rs71393436
NM_133378.4(TTN):c.23030-19_23030-10dupTTTGTTTTGT rs71393436
NM_133378.4(TTN):c.23259A>G (p.Thr7753=) rs61232800
NM_133378.4(TTN):c.2432C>T (p.Thr811Ile) rs35813871
NM_133378.4(TTN):c.24930G>A (p.Arg8310=) rs2742332
NM_133378.4(TTN):c.25421T>C (p.Ile8474Thr) rs4893852
NM_133378.4(TTN):c.25446C>A (p.Ile8482=) rs72650003
NM_133378.4(TTN):c.26031T>C (p.Ile8677=) rs2742343
NM_133378.4(TTN):c.26067G>A (p.Ser8689=) rs2742344
NM_133378.4(TTN):c.26080A>T (p.Thr8694Ser) rs72650006
NM_133378.4(TTN):c.27220G>A (p.Glu9074Lys) rs73038324
NM_133378.4(TTN):c.27832A>G (p.Ile9278Val) rs2042995
NM_133378.4(TTN):c.28132G>A (p.Gly9378Arg) rs2244492
NM_133378.4(TTN):c.28916G>A (p.Arg9639Lys) rs116676813
NM_133378.4(TTN):c.29555G>A (p.Arg9852His) rs36051007
NM_133378.4(TTN):c.30102G>A (p.Glu10034=) rs35112591
NM_133378.4(TTN):c.31067G>A (p.Arg10356His) rs59887778
NM_133378.4(TTN):c.31780G>A (p.Val10594Met) rs73038314
NM_133378.4(TTN):c.32402C>G (p.Pro10801Arg) rs72650066
NM_133378.4(TTN):c.33804T>C (p.Ala11268=) rs55847232
NM_133378.4(TTN):c.34367A>G (p.His11456Arg) rs2288563
NM_133378.4(TTN):c.35079A>G (p.Lys11693=) rs16866425
NM_133378.4(TTN):c.35254A>G (p.Lys11752Glu) rs6723526
NM_133378.4(TTN):c.35784G>A (p.Arg11928=) rs56034831
NM_133378.4(TTN):c.35892T>C (p.Asn11964=) rs16866423
NM_133378.4(TTN):c.35899C>T (p.Arg11967Cys) rs12471771
NM_133378.4(TTN):c.3601A>G (p.Lys1201Glu) rs10497520
NM_133378.4(TTN):c.37502A>T (p.Glu12501Val) rs114331773
NM_133378.4(TTN):c.37624G>A (p.Asp12542Asn) rs17354992
NM_133378.4(TTN):c.37822C>T (p.Leu12608=) rs61004744
NM_133378.4(TTN):c.38034T>C (p.Ala12678=) rs2303829
NM_133378.4(TTN):c.39696G>A (p.Lys13232=) rs114145817
NM_133378.4(TTN):c.41292G>A (p.Glu13764=) rs72677244
NM_133378.4(TTN):c.42027T>C (p.His14009=) rs2115558
NM_133378.4(TTN):c.42281A>C (p.Asn14094Thr) rs36043230
NM_133378.4(TTN):c.43778C>T (p.Ala14593Val) rs16866412
NM_133378.4(TTN):c.43980G>A (p.Ala14660=) rs2288566
NM_133378.4(TTN):c.45117T>C (p.Asp15039=) rs2303831
NM_133378.4(TTN):c.45213T>C (p.Asp15071=) rs73036398
NM_133378.4(TTN):c.45419A>T (p.Lys15140Ile) rs2303832
NM_133378.4(TTN):c.45488T>C (p.Ile15163Thr) rs72646809
NM_133378.4(TTN):c.48397A>G (p.Asn16133Asp) rs1001238
NM_133378.4(TTN):c.49611T>C (p.His16537=) rs35833641
NM_133378.4(TTN):c.50732G>A (p.Arg16911His) rs2288569
NM_133378.4(TTN):c.51229C>T (p.Leu17077=) rs2303836
NM_133378.4(TTN):c.51881C>T (p.Pro17294Leu) rs16866406
NM_133378.4(TTN):c.53541A>G (p.Thr17847=) rs2163009
NM_133378.4(TTN):c.542G>A (p.Ser181Asn) rs72647843
NM_133378.4(TTN):c.54354T>C (p.Tyr18118=) rs1560221
NM_133378.4(TTN):c.56172C>T (p.Asn18724=) rs199598302
NM_133378.4(TTN):c.56328C>T (p.Asn18776=) rs72646857
NM_133378.4(TTN):c.56504C>T (p.Thr18835Ile) rs2042996
NM_133378.4(TTN):c.57388C>T (p.Arg19130Cys) rs72646861
NM_133378.4(TTN):c.57443C>T (p.Ser19148Leu) rs13021201
NM_133378.4(TTN):c.57812C>T (p.Ala19271Val) rs55948748
NM_133378.4(TTN):c.57978A>G (p.Thr19326=) rs4894029
NM_133378.4(TTN):c.58039C>A (p.Gln19347Lys) rs62618736
NM_133378.4(TTN):c.59371G>A (p.Val19791Ile) rs2303838
NM_133378.4(TTN):c.59542G>C (p.Ala19848Pro) rs4145333
NM_133378.4(TTN):c.59931T>C (p.Val19977=) rs2288570
NM_133378.4(TTN):c.60513T>C (p.His20171=) rs10497517
NM_133378.4(TTN):c.61441A>G (p.Ile20481Val) rs72646881
NM_133378.4(TTN):c.61881C>T (p.Ser20627=) rs67041405
NM_133378.4(TTN):c.62992G>C (p.Gly20998Arg) rs55801134
NM_133378.4(TTN):c.63126C>T (p.Ser21042=) rs12464787
NM_133378.4(TTN):c.63665G>A (p.Arg21222His) rs55677134
NM_133378.4(TTN):c.64289G>A (p.Arg21430His) rs10164753
NM_133378.4(TTN):c.67135C>T (p.Arg22379Cys) rs744426
NM_133378.4(TTN):c.67268T>C (p.Ile22423Thr) rs744427
NM_133378.4(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_133378.4(TTN):c.67818A>C (p.Ala22606=) rs6732060
NM_133378.4(TTN):c.68639G>A (p.Ser22880Asn) rs3813243
NM_133378.4(TTN):c.69016T>C (p.Tyr23006His) rs3813245
NM_133378.4(TTN):c.69575A>G (p.Asn23192Ser) rs3813246
NM_133378.4(TTN):c.69934A>G (p.Thr23312Ala) rs56018860
NM_133378.4(TTN):c.70970T>C (p.Ile23657Thr) rs12463674
NM_133378.4(TTN):c.71358T>A (p.Gly23786=) rs3731744
NM_133378.4(TTN):c.71561T>C (p.Ile23854Thr) rs3731745
NM_133378.4(TTN):c.7174G>A (p.Gly2392Ser) rs4894048
NM_133378.4(TTN):c.72158C>T (p.Thr24053Met) rs3731746
NM_133378.4(TTN):c.72931C>A (p.Gln24311Lys) rs79926414
NM_133378.4(TTN):c.73095C>A (p.Thr24365=) rs3813247
NM_133378.4(TTN):c.74151C>T (p.Ile24717=) rs56214710
NM_133378.4(TTN):c.74377C>G (p.Pro24793Ala) rs56137800
NM_133378.4(TTN):c.74793C>T (p.Thr24931=) rs199629314
NM_133378.4(TTN):c.75094G>A (p.Ala25032Thr) rs11896637
NM_133378.4(TTN):c.75359G>A (p.Arg25120His) rs185002960
NM_133378.4(TTN):c.7545C>T (p.Tyr2515=) rs2291306
NM_133378.4(TTN):c.75619A>G (p.Ile25207Val) rs3829746
NM_133378.4(TTN):c.75969T>C (p.Gly25323=) rs2366751
NM_133378.4(TTN):c.76749A>G (p.Pro25583=) rs73036373
NM_133378.4(TTN):c.79107A>G (p.Val26369=) rs55972010
NM_133378.4(TTN):c.79383T>C (p.Leu26461=) rs12621078
NM_133378.4(TTN):c.80104G>A (p.Val26702Ile) rs141624266
NM_133378.4(TTN):c.80173C>T (p.Arg26725Cys) rs191482653
NM_133378.4(TTN):c.80483T>C (p.Ile26828Thr) rs9808377
NM_133378.4(TTN):c.80568G>A (p.Glu26856=) rs9808036
NM_133378.4(TTN):c.81613A>T (p.Ile27205Leu) rs77853750
NM_133378.4(TTN):c.82832G>A (p.Arg27611His) rs149567378
NM_133378.4(TTN):c.83264G>A (p.Arg27755Lys) rs11887722
NM_133378.4(TTN):c.83367T>G (p.Thr27789=) rs11897366
NM_133378.4(TTN):c.84148+8T>A rs56145100
NM_133378.4(TTN):c.84427G>A (p.Val28143Met) rs747122
NM_133378.4(TTN):c.84487A>G (p.Ile28163Val) rs16866391
NM_133378.4(TTN):c.85539C>T (p.Ala28513=) rs3731748
NM_133378.4(TTN):c.85683C>T (p.Ser28561=) rs35445420
NM_133378.4(TTN):c.86197G>A (p.Val28733Ile) rs67665715
NM_133378.4(TTN):c.87343A>G (p.Ser29115Gly) rs72648257
NM_133378.4(TTN):c.87849C>T (p.Ser29283=) rs72648260
NM_133378.4(TTN):c.88454T>C (p.Ile29485Thr) rs62621236
NM_133378.4(TTN):c.8919C>G (p.Ser2973=) rs4894045
NM_133378.4(TTN):c.89240C>T (p.Thr29747Ile) rs56027402
NM_133378.4(TTN):c.89909G>A (p.Arg29970His) rs3731749
NM_133378.4(TTN):c.90091+6G>T rs3731750
NM_133378.4(TTN):c.90394+9T>A rs2288325
NM_133378.4(TTN):c.90460A>T (p.Ile30154Phe) rs72648270
NM_133378.4(TTN):c.91208G>A (p.Arg30403His) rs4894028
NM_133378.4(TTN):c.92392G>A (p.Val30798Ile) rs55675869
NM_133378.4(TTN):c.92755C>T (p.Pro30919Ser) rs72629779
NM_133378.4(TTN):c.92875G>A (p.Val30959Ile) rs2278196
NM_133378.4(TTN):c.94099A>G (p.Ile31367Val) rs56376197
NM_133378.4(TTN):c.9461A>G (p.Lys3154Arg) rs4893853
NM_133378.4(TTN):c.94815C>T (p.Gly31605=) rs2857265
NM_133378.4(TTN):c.95129G>T (p.Gly31710Val) rs3731752
NM_133378.4(TTN):c.96077G>A (p.Arg32026His) rs3829747
NM_133378.4(TTN):c.96673A>C (p.Met32225Leu) rs72629787
NM_133378.4(TTN):c.96872G>A (p.Arg32291Gln) rs68080670
NM_133378.4(TTN):c.97284C>T (p.Val32428=) rs3829748
NM_133378.4(TTN):c.97680A>G (p.Ala32560=) rs3813250
NM_133378.4(TTN):c.9781G>A (p.Val3261Met) rs2291311
NM_133378.4(TTN):c.97825G>A (p.Val32609Met) rs55865284
NM_133378.4(TTN):c.97878C>T (p.Ser32626=) rs3829749
NM_133378.4(TTN):c.98078C>T (p.Pro32693Leu) rs16866380
NM_133378.4(TTN):c.982C>T (p.Arg328Cys) rs16866538
NM_133378.4(TTN):c.98571G>C (p.Gly32857=) rs56207956
NM_133378.4(TTN):c.9879A>G (p.Glu3293=) rs4894043
NM_133378.4(TTN):c.99083C>T (p.Thr33028Ile) rs55842557
NM_133378.4(TTN):c.99563T>C (p.Val33188Ala) rs16866378
NM_133379.4(TTN):c.*265+120028C>T rs55973744
NM_133379.4(TTN):c.*265+69411C>A rs74930148
NM_133379.4(TTN):c.16001C>T (p.Pro5334Leu) rs151253841
TTN:c.100094G>A (p.Arg33365Gln) rs55742743
TTN:c.1003G>A (p.Val335Met) rs72647846
TTN:c.105180G>C (p.Glu35060Asp) rs56308529
TTN:c.15792T>C (p.Ile5264=) rs12993099
TTN:c.18903C>T (p.Thr6301=) rs72648950
TTN:c.19204A>G (p.Met6402Val) rs72648954
TTN:c.22384G>C (p.Asp7462His) rs12693166
TTN:c.2244G>A (p.Glu748=) rs6715406
TTN:c.24431A>C (p.Glu8144Ala) rs16866465
TTN:c.25064C>A (p.Ala8355Glu) rs2627043
TTN:c.25274G>A (p.Ser8425Asn) rs13390491
TTN:c.2781A>C (p.Thr927=) rs55892860
TTN:c.28313G>A (p.Arg9438Gln) rs72648998
TTN:c.2949C>T (p.Ile983=) rs56310516
TTN:c.3087T>C (p.Tyr1029=) rs55863869
TTN:c.32254G>A (p.Val10752Ile) rs72650028
TTN:c.7830G>C (p.Met2610Ile) rs56142888
TTN:c.81958G>A (p.Ala27320Thr) rs56365600
TTN:c.82385C>A (p.Thr27462Lys) rs55933739
TTN:c.83056G>A (p.Val27686Ile) rs56309296
TTN:c.84352C>T (p.Arg28118Cys) rs56057221
TTN:c.8492G>A (p.Ser2831Asn) rs2306636
TTN:c.87669T>C (p.His29223=) rs72648229
TTN:c.9597A>G (p.Glu3199=) rs2291312

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.