ClinVar Miner

List of variants in gene TTN reported by Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust

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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
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.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.48460+5G>A rs374413644 0.00020
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001267550.2(TTN):c.11113del (p.Arg3705fs) rs746386040 0.00011
NM_001267550.2(TTN):c.39895+1G>T rs749931280 0.00006
NM_133379.5(TTN):c.13939del (p.Glu4647fs) rs781363456 0.00006
NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile) rs372371333 0.00005
NM_001267550.2(TTN):c.2494G>T (p.Ala832Ser) rs376133574 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter) rs148430495 0.00004
NM_001267550.2(TTN):c.1245+3A>G rs757221300 0.00003
NM_001267550.2(TTN):c.9164-2A>T rs777369921 0.00003
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_133379.5(TTN):c.13022C>G (p.Ser4341Ter) rs763408700 0.00002
NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter) rs769023413 0.00001
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.10592C>G (p.Ser3531Ter) rs767420661 0.00001
NM_001267550.2(TTN):c.10852C>T (p.Gln3618Ter) rs779064556 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter) rs748111134 0.00001
NM_001267550.2(TTN):c.27328+5G>A rs397517521 0.00001
NM_001267550.2(TTN):c.27607G>A (p.Glu9203Lys) rs769097909 0.00001
NM_001267550.2(TTN):c.31426+1G>C rs6749719 0.00001
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) rs150954246 0.00001
NM_001267550.2(TTN):c.33418+1G>A rs746588865 0.00001
NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter) rs869312048 0.00001
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265 0.00001
NM_001267550.2(TTN):c.57544+4A>G rs869312053 0.00001
NM_001267550.2(TTN):c.58732+2T>C rs869312054 0.00001
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) rs869312098 0.00001
NM_001267550.2(TTN):c.75123T>A (p.Tyr25041Ter) rs753526510 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_133379.5(TTN):c.16529del (p.Val5510fs) rs774991940 0.00001
NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter) rs869312086
NM_001267550.2(TTN):c.101021_101022del (p.Arg33674fs) rs869312087
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs) rs869312122
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter) rs869312068
NM_001267550.2(TTN):c.102630del (p.Lys34210_Val34211insTer) rs869312101
NM_001267550.2(TTN):c.106374+1del rs763404256
NM_001267550.2(TTN):c.106629del (p.Ala35544fs) rs869312069
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter) rs374300381
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) rs869312102
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs) rs869312038
NM_001267550.2(TTN):c.12757C>T (p.Gln4253Ter) rs869312039
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) rs869312103
NM_001267550.2(TTN):c.14056del (p.Thr4686fs) rs869312104
NM_001267550.2(TTN):c.15776-1G>T rs869312094
NM_001267550.2(TTN):c.2841G>T (p.Ser947=) rs774074192
NM_001267550.2(TTN):c.29062del (p.Ala9688fs) rs869312040
NM_001267550.2(TTN):c.30803-2A>G rs869312089
NM_001267550.2(TTN):c.31594G>T (p.Val10532Phe) rs763955552
NM_001267550.2(TTN):c.32095+5G>A rs869312090
NM_001267550.2(TTN):c.32554+1G>C rs376018437
NM_001267550.2(TTN):c.32888-1del rs869312041
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.41447del (p.Gly13816fs) rs869312042
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41835T>G (p.Tyr13945Ter) rs869312105
NM_001267550.2(TTN):c.42636del (p.Ala14213fs) rs869312106
NM_001267550.2(TTN):c.43792del (p.Gly14597_Val14598insTer) rs869312044
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.45756dup (p.Tyr15253fs) rs869312045
NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter) rs869312046
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter) rs397517587
NM_001267550.2(TTN):c.47142_47143dup (p.Glu15715fs) rs869312107
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.47875+1G>A rs869312047
NM_001267550.2(TTN):c.49346-1G>A rs869312070
NM_001267550.2(TTN):c.49458G>A (p.Trp16486Ter) rs869312108
NM_001267550.2(TTN):c.50247del (p.Phe16749fs) rs869312071
NM_001267550.2(TTN):c.52035_52036insTT (p.Leu17346fs) rs869312049
NM_001267550.2(TTN):c.52128del (p.Phe17376fs) rs869312095
NM_001267550.2(TTN):c.52223_52227dup (p.Asp17410fs) rs869312050
NM_001267550.2(TTN):c.53488G>T (p.Gly17830Ter) rs759231562
NM_001267550.2(TTN):c.53881+1G>T rs869312051
NM_001267550.2(TTN):c.55303-1G>A rs748369265
NM_001267550.2(TTN):c.55525_55531del (p.Asp18509fs) rs869312052
NM_001267550.2(TTN):c.56206del (p.Thr18736fs) rs869312109
NM_001267550.2(TTN):c.56834del (p.Gly18945fs) rs869312110
NM_001267550.2(TTN):c.58172del (p.Asp19391fs) rs869312072
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.65476G>T (p.Glu21826Ter) rs763824247
NM_001267550.2(TTN):c.67159del (p.Ile22386_Ile22387insTer) rs869312092
NM_001267550.2(TTN):c.69412+1G>A rs869312074
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs) rs869312113
NM_001267550.2(TTN):c.70791del (p.Gly23598fs) rs869312076
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter) rs869312115
NM_001267550.2(TTN):c.74306dup (p.Asn24769fs) rs869312056
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74880_74883dup (p.Pro24962fs) rs869312116
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.76116_76117insA (p.His25373fs) rs869312077
NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs) rs869312078
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs) rs869312117
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter) rs869312057
NM_001267550.2(TTN):c.78507del (p.Gly26170fs) rs869312058
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter) rs79926414
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs) rs869312059
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81518del (p.Pro27173fs) rs869312079
NM_001267550.2(TTN):c.82513del (p.Ile27505fs) rs869312060
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) rs869312100
NM_001267550.2(TTN):c.86459_86460del (p.Ser28820fs) rs869312080
NM_001267550.2(TTN):c.86641del (p.His28881fs) rs869312061
NM_001267550.2(TTN):c.86967G>A (p.Trp28989Ter) rs869312062
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter) rs772121356
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.87887_87890del (p.His29296fs) rs869312120
NM_001267550.2(TTN):c.89750dup (p.Val29918fs) rs869312063
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.90087_90088del (p.Glu30029fs) rs869312064
NM_001267550.2(TTN):c.90322_90323insT (p.Glu30108fs) rs869312082
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94562dup (p.Thr31522fs) rs869312083
NM_001267550.2(TTN):c.94852_94858del (p.Ala31618fs) rs869312066
NM_001267550.2(TTN):c.95415_95416+2del rs769407533
NM_001267550.2(TTN):c.9727C>T (p.Gln3243Ter) rs869312093
NM_001267550.2(TTN):c.98265_98268dup (p.His32757fs) rs869312067
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_133379.5(TTN):c.10443del (p.Lys3481fs) rs869312096
NM_133379.5(TTN):c.13410dup (p.Gly4471fs) rs768458450
NM_133379.5(TTN):c.13660dup (p.Ile4554fs) rs771985828
NM_133379.5(TTN):c.13705G>T (p.Glu4569Ter) rs372994805
NM_133379.5(TTN):c.15305del (p.Thr5102fs) rs869312097

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