ClinVar Miner

List of variants reported as likely benign for Early-onset myopathy with fatal cardiomyopathy by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01912
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01659
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01643
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01497
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01453
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01324
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01270
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01231
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01166
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01136
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01037
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01037
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01024
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.00987
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779 0.00905
NM_001267550.2(TTN):c.33340+10T>C rs72650039 0.00830
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798 0.00826
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00798
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00782
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.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00725
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00724
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00722
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) rs72648979 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.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00656
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) rs72648977 0.00653
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00632
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00623
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00613
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00611
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) rs76815324 0.00610
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00607
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00603
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00573
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) rs113391261 0.00559
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00536
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00503
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00497
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00473
NM_001267550.2(TTN):c.*587T>A rs114788736 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00462
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00447
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740 0.00443
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00433
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00431
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00415
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=) rs114267234 0.00405
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00397
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=) rs116378128 0.00391
NM_001267550.2(TTN):c.*130G>C rs144026962 0.00370
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00354
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00349
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00335
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00312
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu) rs73973137 0.00308
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00304
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00283
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00267
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00205
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00204
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00195
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00184
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00183
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00181
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00180
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00180
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00178
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00178
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00176
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00175
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00161
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00140
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.34453+12C>A rs74930148 0.00123
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00117
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00117
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
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.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00101
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00099
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00097
NM_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00077
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148 0.00076
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00075
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00074
NM_001267550.2(TTN):c.30224-8T>G rs72650010 0.00070
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797 0.00059
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00042
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358 0.00040
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00032
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00028
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=) rs146353237 0.00024
NM_001267550.2(TTN):c.57112-4C>T rs117072049 0.00019
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) rs397517636 0.00004
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.*99dup rs11424072
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.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.34453+14G>A rs397517550
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_133378.4(TTN):c.26780-19dup rs397517532

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