ClinVar Miner

List of variants in gene LOC126806423, TTN studied for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.67637-17T>C rs2288571 0.24363
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.68211G>A (p.Ala22737=) rs536824562 0.00011
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.68225-5T>C rs758273663 0.00009
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.67636+11A>G rs185898410 0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.67637-4A>G rs376053678 0.00005
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu) rs534340303 0.00005
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile) rs775731759 0.00004
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=) rs755897447 0.00004
NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg) rs761210578 0.00004
NM_001267550.2(TTN):c.67537T>C (p.Leu22513=) rs727504507 0.00003
NM_001267550.2(TTN):c.67637-6T>C rs759070877 0.00003
NM_001267550.2(TTN):c.68154C>T (p.Val22718=) rs755685437 0.00003
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp) rs563233842 0.00002
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp) rs776797528 0.00002
NM_001267550.2(TTN):c.67731G>A (p.Lys22577=) rs1459363772 0.00002
NM_001267550.2(TTN):c.67737T>G (p.Ala22579=) rs765975995 0.00002
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg) rs775579156 0.00002
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512 0.00002
NM_001267550.2(TTN):c.67428C>T (p.His22476=) rs772184456 0.00001
NM_001267550.2(TTN):c.67569G>A (p.Val22523=) rs376719475 0.00001
NM_001267550.2(TTN):c.67636+2T>C rs1575872984 0.00001
NM_001267550.2(TTN):c.67637-9A>G rs2047164551 0.00001
NM_001267550.2(TTN):c.67681T>C (p.Leu22561=) rs397517671 0.00001
NM_001267550.2(TTN):c.67692A>G (p.Glu22564=) rs780239325 0.00001
NM_001267550.2(TTN):c.67743A>T (p.Ser22581=) rs2047137031 0.00001
NM_001267550.2(TTN):c.67788A>G (p.Arg22596=) rs1326950042 0.00001
NM_001267550.2(TTN):c.67827A>C (p.Ile22609=) rs751153093 0.00001
NM_001267550.2(TTN):c.67914A>C (p.Ile22638=) rs878934438 0.00001
NM_001267550.2(TTN):c.67923T>C (p.Val22641=) rs759628511 0.00001
NM_001267550.2(TTN):c.67980C>T (p.Ala22660=) rs756764696 0.00001
NM_001267550.2(TTN):c.67989A>T (p.Leu22663Phe) rs1485610846 0.00001
NM_001267550.2(TTN):c.68010T>C (p.Asp22670=) rs767755200 0.00001
NM_001267550.2(TTN):c.68040C>T (p.Ile22680=) rs1422070023 0.00001
NM_001267550.2(TTN):c.68052G>A (p.Arg22684=) rs770247697 0.00001
NM_001267550.2(TTN):c.68067C>T (p.Asn22689=) rs777832243 0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) rs758700425 0.00001
NM_001267550.2(TTN):c.68142T>C (p.Tyr22714=) rs377007499 0.00001
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=) rs397517673 0.00001
NM_001267550.2(TTN):c.68181G>A (p.Gly22727=) rs2047051742 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.68196G>A (p.Ser22732=) rs397517674 0.00001
NM_001267550.2(TTN):c.68199G>A (p.Glu22733=) rs375672522 0.00001
NM_001267550.2(TTN):c.68224+20A>G rs753714710 0.00001
NM_001267550.2(TTN):c.68224+2T>C rs1321711553 0.00001
NM_001267550.2(TTN):c.68224+3A>G rs1006017098 0.00001
NM_001267550.2(TTN):c.68225-9T>A rs780964424 0.00001
NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser) rs764562311 0.00001
NM_001267550.2(TTN):c.68252A>G (p.Asn22751Ser) rs761226149 0.00001
NM_001267550.2(TTN):c.68304G>A (p.Lys22768=) rs776267206 0.00001
NM_001267550.2(TTN):c.67421del (p.Lys22474fs) rs794729332
NM_001267550.2(TTN):c.67446G>A (p.Arg22482=) rs2154175758
NM_001267550.2(TTN):c.67446del (p.Ile22483fs) rs2154175760
NM_001267550.2(TTN):c.67458T>C (p.Tyr22486=)
NM_001267550.2(TTN):c.67485T>C (p.Asn22495=) rs2154175738
NM_001267550.2(TTN):c.67488G>A (p.Lys22496=) rs2154175733
NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)
NM_001267550.2(TTN):c.67495C>A (p.Arg22499=)
NM_001267550.2(TTN):c.67541_67542delinsTG (p.Thr22514Met) rs1553622336
NM_001267550.2(TTN):c.67548G>A (p.Gly22516=) rs1437157451
NM_001267550.2(TTN):c.67555del (p.Tyr22519fs) rs2154175699
NM_001267550.2(TTN):c.67556_67559dup (p.Phe22521fs) rs2154175692
NM_001267550.2(TTN):c.67557T>C (p.Tyr22519=)
NM_001267550.2(TTN):c.67575T>A (p.Ala22525=)
NM_001267550.2(TTN):c.67575T>G (p.Ala22525=) rs755060136
NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter) rs2047236705
NM_001267550.2(TTN):c.67587T>C (p.Asn22529=) rs1057523544
NM_001267550.2(TTN):c.67590_67591insCTCCATGGGCTCTTCTCTTGCTTTGAAAACTCCCCCTTTTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTACCCCTCCCCCTCCCCCTCTCCCTCTNNNNNNNNNNAAAAACAAAAAAAAAAAAAAGAATGAAAATGGA (p.Glu22531fs) rs2154175675
NM_001267550.2(TTN):c.67605C>T (p.Ser22535=) rs750847940
NM_001267550.2(TTN):c.67614T>C (p.Thr22538=) rs1180310461
NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala) rs1553622176
NM_001267550.2(TTN):c.67620G>A (p.Val22540=)
NM_001267550.2(TTN):c.67636+12T>C
NM_001267550.2(TTN):c.67636+12T>G
NM_001267550.2(TTN):c.67636+17A>C
NM_001267550.2(TTN):c.67636+19A>G
NM_001267550.2(TTN):c.67636+2_67636+3insC rs2047225762
NM_001267550.2(TTN):c.67636G>A (p.Val22546Met) rs794729244
NM_001267550.2(TTN):c.67637-14C>G
NM_001267550.2(TTN):c.67637-19del
NM_001267550.2(TTN):c.67637-20T>C
NM_001267550.2(TTN):c.67637-8T>C
NM_001267550.2(TTN):c.67653C>T (p.Asp22551=)
NM_001267550.2(TTN):c.67655T>G (p.Leu22552Ter)
NM_001267550.2(TTN):c.67665A>G (p.Leu22555=)
NM_001267550.2(TTN):c.67707G>C (p.Arg22569=)
NM_001267550.2(TTN):c.67716C>A (p.Ile22572=) rs754283751
NM_001267550.2(TTN):c.67716C>T (p.Ile22572=) rs754283751
NM_001267550.2(TTN):c.67750del (p.Trp22584fs)
NM_001267550.2(TTN):c.67762del (p.Glu22588fs) rs2154175340
NM_001267550.2(TTN):c.67782C>T (p.Asp22594=) rs1575865334
NM_001267550.2(TTN):c.67794T>C (p.Ser22598=) rs960274505
NM_001267550.2(TTN):c.67794del (p.Ser22598fs)
NM_001267550.2(TTN):c.67800G>A (p.Glu22600=)
NM_001267550.2(TTN):c.67804T>C (p.Ser22602Pro) rs780276317
NM_001267550.2(TTN):c.67817C>T (p.Thr22606Ile) rs1254285646
NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)
NM_001267550.2(TTN):c.67836T>C (p.Asp22612=) rs1375493430
NM_001267550.2(TTN):c.67839C>T (p.Cys22613=) rs2154175290
NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter) rs2154175288
NM_001267550.2(TTN):c.67854T>C (p.Ala22618=)
NM_001267550.2(TTN):c.67866A>C (p.Thr22622=) rs1559485882
NM_001267550.2(TTN):c.67887T>G (p.Ala22629=) rs2154175252
NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter) rs1553621179
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs)
NM_001267550.2(TTN):c.67901_67904dup (p.Ile22636fs)
NM_001267550.2(TTN):c.67905T>G (p.Thr22635=) rs2154175245
NM_001267550.2(TTN):c.67906_67909dup (p.Ser22637fs)
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile) rs750093105
NM_001267550.2(TTN):c.67919T>C (p.Val22640Ala) rs1060500506
NM_001267550.2(TTN):c.67932T>A (p.Pro22644=) rs2154175212
NM_001267550.2(TTN):c.67962T>C (p.Asp22654=) rs779729130
NM_001267550.2(TTN):c.67965A>G (p.Glu22655=) rs2154175172
NM_001267550.2(TTN):c.67971A>G (p.Thr22657=) rs2154175166
NM_001267550.2(TTN):c.67977A>G (p.Glu22659=)
NM_001267550.2(TTN):c.67980C>G (p.Ala22660=) rs756764696
NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)
NM_001267550.2(TTN):c.68022dup (p.Glu22675Ter)
NM_001267550.2(TTN):c.68034C>T (p.Asn22678=) rs1553620816
NM_001267550.2(TTN):c.68043A>G (p.Leu22681=)
NM_001267550.2(TTN):c.68061G>C (p.Val22687=)
NM_001267550.2(TTN):c.68066A>G (p.Asn22689Ser) rs375397094
NM_001267550.2(TTN):c.68091T>C (p.Ala22697=)
NM_001267550.2(TTN):c.68108_68109del (p.Thr22702_Phe22703insTer) rs2154175051
NM_001267550.2(TTN):c.68163A>G (p.Glu22721=)
NM_001267550.2(TTN):c.68169A>G (p.Lys22723=)
NM_001267550.2(TTN):c.68172T>C (p.Tyr22724=)
NM_001267550.2(TTN):c.68176G>A (p.Val22726Ile) rs1553620392
NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser) rs886039082
NM_001267550.2(TTN):c.68220A>G (p.Pro22740=)
NM_001267550.2(TTN):c.68224+12A>G
NM_001267550.2(TTN):c.68224+1G>A rs754250350
NM_001267550.2(TTN):c.68224+3_68224+6del
NM_001267550.2(TTN):c.68225-10T>C rs1378546349
NM_001267550.2(TTN):c.68225-12A>G
NM_001267550.2(TTN):c.68225-15T>C
NM_001267550.2(TTN):c.68225-18T>C rs1416277306
NM_001267550.2(TTN):c.68225-1G>A
NM_001267550.2(TTN):c.68225-6T>A
NM_001267550.2(TTN):c.68225-8T>C
NM_001267550.2(TTN):c.68229G>C (p.Val22743=)
NM_001267550.2(TTN):c.68229G>T (p.Val22743=)
NM_001267550.2(TTN):c.68230C>A (p.Pro22744Thr)
NM_001267550.2(TTN):c.68232T>C (p.Pro22744=)
NM_001267550.2(TTN):c.68235T>C (p.Asp22745=) rs757244505
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68262T>C (p.Asp22754=) rs2047008596
NM_001267550.2(TTN):c.68262_68266del (p.Asp22754fs)
NM_001267550.2(TTN):c.68266A>C (p.Arg22756=) rs2154174824
NM_001267550.2(TTN):c.68269del (p.His22757fs) rs2154174822
NM_001267550.2(TTN):c.68271C>T (p.His22757=) rs750271244
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs) rs2154174801
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68310T>C (p.Thr22770=)
NM_001267550.2(TTN):c.68325dup (p.Thr22776fs) rs1575853060
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68329+11T>A
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303
NM_001267550.2(TTN):c.68329+8G>T rs1026061408
NM_001267550.2(TTN):c.68329G>C (p.Gly22777Arg) rs2154174748

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