ClinVar Miner

List of variants in gene TTN reported by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523 0.00046
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.20485G>A (p.Gly6829Ser) rs139549363 0.00011
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.16060G>C (p.Asp5354His) rs745578038 0.00009
NM_001267550.2(TTN):c.40082T>A (p.Ile13361Asn) rs568151115 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu) rs538959125 0.00008
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp) rs199755820 0.00008
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys) rs371908649 0.00007
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.73391G>A (p.Arg24464Gln) rs750056949 0.00006
NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr) rs200724395 0.00006
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564 0.00004
NM_001267550.2(TTN):c.10690G>C (p.Asp3564His) rs371708823 0.00004
NM_001267550.2(TTN):c.24196G>A (p.Asp8066Asn) rs755202091 0.00004
NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn) rs746722623 0.00004
NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys) rs772625773 0.00004
NM_001267550.2(TTN):c.9167G>A (p.Arg3056His) rs547301978 0.00004
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val) rs202090888 0.00004
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser) rs727505333 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr) rs752150323 0.00002
NM_001267550.2(TTN):c.2662G>A (p.Asp888Asn) rs759686739 0.00002
NM_001267550.2(TTN):c.5889A>C (p.Lys1963Asn) rs897521028 0.00002
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser) rs727503576 0.00002
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.23669G>T (p.Arg7890Ile) rs370939248 0.00001
NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val) rs1560628327 0.00001
NM_001267550.2(TTN):c.28132C>T (p.Pro9378Ser) rs879082824 0.00001
NM_001267550.2(TTN):c.30503C>T (p.Thr10168Met) rs746275042 0.00001
NM_001267550.2(TTN):c.40837G>A (p.Ala13613Thr) rs750346508 0.00001
NM_001267550.2(TTN):c.42872C>T (p.Ala14291Val) rs746486506 0.00001
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln) rs772498581 0.00001
NM_001267550.2(TTN):c.73416A>C (p.Lys24472Asn) rs1239070012 0.00001
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) rs765512476 0.00001
NM_001267550.2(TTN):c.80923C>A (p.Pro26975Thr) rs1283579585 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.85328T>A (p.Val28443Asp) rs1703365236 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly) rs760917372 0.00001
NM_133379.5(TTN):c.15379A>G (p.Thr5127Ala) rs745702519 0.00001
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
NM_001267550.2(TTN):c.10115-1G>C rs2088245783
NM_001267550.2(TTN):c.101533T>C (p.Tyr33845His) rs1227515280
NM_001267550.2(TTN):c.10255_10256delinsGA (p.Ser3419Asp) rs2088203924
NM_001267550.2(TTN):c.1034G>A (p.Trp345Ter) rs1574929972
NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys) rs1558972236
NM_001267550.2(TTN):c.107224-1G>C rs112720067
NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe) rs1473450556
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro) rs794729589
NM_001267550.2(TTN):c.11311+1872G>C
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter) rs2082478614
NM_001267550.2(TTN):c.12347C>A (p.Ser4116Tyr)
NM_001267550.2(TTN):c.15361T>C (p.Tyr5121His)
NM_001267550.2(TTN):c.15496+1G>T rs397517481
NM_001267550.2(TTN):c.20772G>T (p.Lys6924Asn) rs369993514
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.22982A>C (p.Asn7661Thr) rs2078278433
NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) rs727504205
NM_001267550.2(TTN):c.26258T>G (p.Val8753Gly) rs867579263
NM_001267550.2(TTN):c.26305T>G (p.Trp8769Gly) rs779847107
NM_001267550.2(TTN):c.27602T>C (p.Ile9201Thr) rs911557684
NM_001267550.2(TTN):c.28399T>C (p.Tyr9467His) rs2076528608
NM_001267550.2(TTN):c.313A>G (p.Asn105Asp)
NM_001267550.2(TTN):c.31473G>A (p.Met10491Ile) rs780137093
NM_001267550.2(TTN):c.31530G>T (p.Lys10510Asn) rs778911890
NM_001267550.2(TTN):c.32554+3A>G rs2070438723
NM_001267550.2(TTN):c.32653A>G (p.Met10885Val) rs200732179
NM_001267550.2(TTN):c.32872C>A (p.Pro10958Thr) rs2069920810
NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys)
NM_001267550.2(TTN):c.33325G>A (p.Glu11109Lys) rs1420096611
NM_001267550.2(TTN):c.33910+3A>G
NM_001267550.2(TTN):c.34207G>C (p.Glu11403Gln) rs878921943
NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs) rs2066169270
NM_001267550.2(TTN):c.36281-7T>G
NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter)
NM_001267550.2(TTN):c.41063A>G (p.Glu13688Gly) rs2060476554
NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp) rs998106657
NM_001267550.2(TTN):c.43800A>C (p.Lys14600Asn) rs769967388
NM_001267550.2(TTN):c.45897G>C (p.Glu15299Asp) rs760431926
NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
NM_001267550.2(TTN):c.46354T>G (p.Cys15452Gly) rs2058039119
NM_001267550.2(TTN):c.47102G>C (p.Arg15701Thr)
NM_001267550.2(TTN):c.48073A>T (p.Ser16025Cys) rs1185643168
NM_001267550.2(TTN):c.49609A>C (p.Ser16537Arg)
NM_001267550.2(TTN):c.5045T>G (p.Leu1682Trp) rs2092276401
NM_001267550.2(TTN):c.51885G>T (p.Lys17295Asn) rs72632861
NM_001267550.2(TTN):c.5483T>G (p.Leu1828Arg) rs2092226818
NM_001267550.2(TTN):c.55154A>G (p.Gln18385Arg) rs2053613633
NM_001267550.2(TTN):c.55264A>G (p.Met18422Val) rs2053594072
NM_001267550.2(TTN):c.55345T>C (p.Cys18449Arg) rs2053507157
NM_001267550.2(TTN):c.5576G>A (p.Arg1859Lys) rs777923620
NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)
NM_001267550.2(TTN):c.62272G>A (p.Glu20758Lys) rs794729470
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.63009G>C (p.Lys21003Asn) rs794729472
NM_001267550.2(TTN):c.63047G>C (p.Ser21016Thr) rs1169239147
NM_001267550.2(TTN):c.63450A>G (p.Gln21150=) rs2049398530
NM_001267550.2(TTN):c.64066A>G (p.Lys21356Glu) rs2049196006
NM_001267550.2(TTN):c.65062G>A (p.Gly21688Arg) rs372661193
NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His) rs1447894010
NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp) rs1559507734
NM_001267550.2(TTN):c.71371C>T (p.Leu23791Phe)
NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.77618C>T (p.Ala25873Val) rs751402631
NM_001267550.2(TTN):c.80906T>G (p.Val26969Gly) rs1705274718
NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn) rs550999055
NM_001267550.2(TTN):c.82325T>C (p.Phe27442Ser) rs998149958
NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)
NM_001267550.2(TTN):c.85769G>C (p.Arg28590Pro) rs375667028
NM_001267550.2(TTN):c.86822-2A>G rs773710035
NM_001267550.2(TTN):c.86822-8T>G
NM_001267550.2(TTN):c.86974T>G (p.Cys28992Gly) rs769162510
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001267550.2(TTN):c.91564+2T>C rs1699208458
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) rs1698600051
NM_001267550.2(TTN):c.92785G>A (p.Ala30929Thr) rs1192451781
NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)
NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)
NM_001267550.2(TTN):c.94771G>C (p.Gly31591Arg) rs1697305563
NM_001267550.2(TTN):c.98989+2T>C
NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)

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