ClinVar Miner

List of variants in gene TTN reported by Genetics and Genomics Program, Sidra Medicine

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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_133379.5(TTN):c.16613G>A (p.Arg5538His) rs145932311 0.00071
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) rs374147064 0.00030
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_001267550.2(TTN):c.38975A>T (p.Lys12992Ile) rs746094582 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177 0.00011
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His) rs372267046 0.00007
NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr) rs372276487 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 0.00006
NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser) rs182516675 0.00005
NM_001267550.2(TTN):c.28299C>G (p.Asp9433Glu) rs372608982 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.5698G>A (p.Val1900Met) rs750823043 0.00003
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg) rs769162510 0.00003
NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His) rs544353741 0.00003
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met) rs191708454 0.00003
NM_133379.5(TTN):c.12538T>A (p.Cys4180Ser) rs548549470 0.00003
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln) rs397517520 0.00002
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu) rs193051231 0.00002
NM_001267550.2(TTN):c.3509C>T (p.Ser1170Phe) rs759110931 0.00002
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile) rs769311670 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp) rs751534449 0.00001
NM_001267550.2(TTN):c.21674T>C (p.Phe7225Ser) rs780534846 0.00001
NM_001267550.2(TTN):c.35338G>A (p.Glu11780Lys) rs2066744414 0.00001
NM_001267550.2(TTN):c.41282G>A (p.Arg13761His) rs781139091 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.71348G>A (p.Arg23783His) rs145504744 0.00001
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile) rs397517690 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.81809T>C (p.Ile27270Thr) rs368527797 0.00001
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00001
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) rs531432790 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.94748G>A (p.Arg31583His) rs727503544 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001267550.2(TTN):c.100603G>A (p.Glu33535Lys) rs1691401261
NM_001267550.2(TTN):c.1013G>A (p.Gly338Asp) rs2093698726
NM_001267550.2(TTN):c.104971A>G (p.Thr34991Ala) rs764200285
NM_001267550.2(TTN):c.15040A>G (p.Thr5014Ala) rs143093473
NM_001267550.2(TTN):c.170_172del (p.Ser57del) rs2094107459
NM_001267550.2(TTN):c.21988G>C (p.Glu7330Gln) rs2078661310
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe) rs550882549
NM_001267550.2(TTN):c.26161G>A (p.Val8721Met) rs777730788
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala) rs757869762
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.35225A>T (p.Lys11742Ile) rs2067070782
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu) rs1236045684
NM_001267550.2(TTN):c.39020A>C (p.Lys13007Thr) rs532069408
NM_001267550.2(TTN):c.39833AGA[1] (p.Lys13279del) rs765355244
NM_001267550.2(TTN):c.40133C>T (p.Pro13378Leu) rs2062187429
NM_001267550.2(TTN):c.40520G>A (p.Arg13507His) rs771858747
NM_001267550.2(TTN):c.40608del (p.Lys13536fs) rs1284446305
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe) rs771361227
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly) rs781195013
NM_001267550.2(TTN):c.54316G>A (p.Asp18106Asn) rs2054384818
NM_001267550.2(TTN):c.54327del (p.Lys18110fs) rs2054381012
NM_001267550.2(TTN):c.55679G>A (p.Gly18560Asp) rs1334608070
NM_001267550.2(TTN):c.56974C>T (p.Pro18992Ser) rs878938953
NM_001267550.2(TTN):c.60367G>A (p.Glu20123Lys) rs1407608886
NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu) rs2049804283
NM_001267550.2(TTN):c.63571C>A (p.Pro21191Thr) rs2049345864
NM_001267550.2(TTN):c.65144G>A (p.Arg21715Gln) rs368450785
NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys) rs768049902
NM_001267550.2(TTN):c.66847G>A (p.Val22283Ile) rs554828165
NM_001267550.2(TTN):c.67271A>G (p.Tyr22424Cys)
NM_001267550.2(TTN):c.72856G>T (p.Gly24286Ter) rs1198682781
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs) rs1708504899
NM_001267550.2(TTN):c.74468C>G (p.Ala24823Gly) rs368071644
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.7501C>G (p.Arg2501Gly) rs781459488
NM_001267550.2(TTN):c.75296C>A (p.Ala25099Glu) rs1707934758
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr) rs572384303
NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn) rs550999055
NM_001267550.2(TTN):c.8674G>C (p.Glu2892Gln) rs763393324
NM_001267550.2(TTN):c.87157A>G (p.Thr29053Ala) rs1702238937
NM_001267550.2(TTN):c.90468G>T (p.Lys30156Asn) rs777057812
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs) rs769422187
NM_001267550.2(TTN):c.91363G>A (p.Val30455Met) rs766444853
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp) rs755031142
NM_133379.5(TTN):c.11684T>C (p.Ile3895Thr) rs2085229392

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