ClinVar Miner

List of variants in gene TTN reported by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile) rs80136515 0.00471
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) rs200875379 0.00105
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile) rs142841000 0.00051
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761 0.00043
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly) rs537312655 0.00043
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00042
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540 0.00039
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.41330-7T>A rs373636988 0.00027
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.40123G>A (p.Glu13375Lys) rs988844595 0.00022
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.36936A>T (p.Lys12312Asn) rs765517955 0.00016
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) rs139542862 0.00013
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala) rs375309278 0.00011
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933 0.00009
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00008
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) rs144398602 0.00007
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln) rs573695008 0.00006
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser) rs766074604 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.73391G>A (p.Arg24464Gln) rs750056949 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 0.00006
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn) rs747907234 0.00004
NM_001267550.2(TTN):c.31174G>A (p.Glu10392Lys) rs187792775 0.00004
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr) rs769226745 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg) rs757537780 0.00004
NM_001267550.2(TTN):c.131A>T (p.Gln44Leu) rs867308852 0.00003
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr) rs375907742 0.00003
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu) rs763845436 0.00003
NM_001267550.2(TTN):c.46079T>C (p.Ile15360Thr) rs1465320800 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu) rs1371471381 0.00003
NM_001267550.2(TTN):c.89753T>C (p.Val29918Ala) rs768749427 0.00003
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr) rs761362832 0.00003
NM_001267550.2(TTN):c.16464A>C (p.Lys5488Asn) rs760521859 0.00002
NM_001267550.2(TTN):c.19289A>G (p.Tyr6430Cys) rs781726929 0.00002
NM_001267550.2(TTN):c.2662G>A (p.Asp888Asn) rs759686739 0.00002
NM_001267550.2(TTN):c.47732T>C (p.Met15911Thr) rs761390938 0.00002
NM_001267550.2(TTN):c.78508G>A (p.Gly26170Ser) rs781248790 0.00002
NM_001267550.2(TTN):c.10067C>T (p.Thr3356Ile) rs763323132 0.00001
NM_001267550.2(TTN):c.104017A>G (p.Met34673Val) rs758352523 0.00001
NM_001267550.2(TTN):c.106342C>T (p.Arg35448Trp) rs530453291 0.00001
NM_001267550.2(TTN):c.14495G>A (p.Gly4832Asp) rs1485727928 0.00001
NM_001267550.2(TTN):c.19484G>A (p.Gly6495Asp) rs182633829 0.00001
NM_001267550.2(TTN):c.21911T>C (p.Ile7304Thr) rs766599708 0.00001
NM_001267550.2(TTN):c.22868G>A (p.Gly7623Glu) rs752804619 0.00001
NM_001267550.2(TTN):c.23363C>T (p.Ser7788Phe) rs749160569 0.00001
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) rs397517527 0.00001
NM_001267550.2(TTN):c.29305T>C (p.Tyr9769His) rs778087108 0.00001
NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala) rs1413214135 0.00001
NM_001267550.2(TTN):c.44014G>A (p.Asp14672Asn) rs1339350914 0.00001
NM_001267550.2(TTN):c.47495G>A (p.Arg15832Gln) rs376140223 0.00001
NM_001267550.2(TTN):c.50999G>A (p.Arg17000Lys) rs767481574 0.00001
NM_001267550.2(TTN):c.58858A>G (p.Thr19620Ala) rs1215190215 0.00001
NM_001267550.2(TTN):c.61182G>C (p.Lys20394Asn) rs1251147363 0.00001
NM_001267550.2(TTN):c.63976C>T (p.His21326Tyr) rs1413306492 0.00001
NM_001267550.2(TTN):c.6462C>G (p.Ile2154Met) rs780879621 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.75923C>T (p.Pro25308Leu) rs776006935 0.00001
NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile) rs774609232 0.00001
NM_001267550.2(TTN):c.89590A>G (p.Lys29864Glu) rs770839822 0.00001
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln) rs201696360 0.00001
NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) rs794727542
NM_001267550.2(TTN):c.103374C>G (p.Tyr34458Ter) rs1060500505
NM_001267550.2(TTN):c.13760del (p.Glu4587fs) rs1266489077
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.30683-17dup rs368277751
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.33611A>C (p.Glu11204Ala) rs1202130741
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.39212-9C>A rs373056460
NM_001267550.2(TTN):c.41038G>A (p.Ala13680Thr) rs1576748259
NM_001267550.2(TTN):c.42513T>A (p.His14171Gln) rs142842339
NM_001267550.2(TTN):c.43604_43607dup (p.His14537fs) rs1576685753
NM_001267550.2(TTN):c.43631T>C (p.Met14544Thr) rs1576685386
NM_001267550.2(TTN):c.51260G>A (p.Arg17087Lys) rs1576402466
NM_001267550.2(TTN):c.51352T>C (p.Phe17118Leu) rs1161061741
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.52254G>C (p.Trp17418Cys) rs536554790
NM_001267550.2(TTN):c.57356A>T (p.Lys19119Met) rs1576219870
NM_001267550.2(TTN):c.57399A>C (p.Leu19133Phe) rs1576219060
NM_001267550.2(TTN):c.58160C>G (p.Thr19387Arg) rs771653779
NM_001267550.2(TTN):c.58838del (p.Tyr19613fs) rs1576141328
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.64038T>G (p.Tyr21346Ter) rs1161735211
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001267550.2(TTN):c.75637G>T (p.Val25213Phe) rs72646901
NM_001267550.2(TTN):c.75841G>T (p.Ala25281Ser) rs754787711
NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser) rs765136135
NM_001267550.2(TTN):c.7954T>C (p.Trp2652Arg) rs1574584723
NM_001267550.2(TTN):c.86345C>T (p.Pro28782Leu) rs561319491
NM_001267550.2(TTN):c.8738T>C (p.Met2913Thr) rs1574560480
NM_001267550.2(TTN):c.88334A>C (p.Glu29445Ala) rs1575553884
NM_001267550.2(TTN):c.91034G>A (p.Trp30345Ter) rs1575512482
NM_001267550.2(TTN):c.92099T>C (p.Phe30700Ser) rs746552047
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) rs755848026
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830

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