ClinVar Miner

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

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
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.3295G>A (p.Val1099Met) rs368282893 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.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.33164C>T (p.Pro11055Leu) rs193051231 0.00002
NM_001267550.2(TTN):c.3509C>T (p.Ser1170Phe) rs759110931 0.00002
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.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.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.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.39833AGA[1] (p.Lys13279del) rs765355244
NM_001267550.2(TTN):c.40520G>A (p.Arg13507His) rs771858747
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.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.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.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.7501C>G (p.Arg2501Gly) rs781459488
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.91363G>A (p.Val30455Met) rs766444853
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp) rs755031142

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