ClinVar Miner

List of variants in gene TTN reported as uncertain significance for Primary dilated cardiomyopathy

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Gene type:
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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
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.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.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_001267550.2(TTN):c.48460+5G>A rs374413644 0.00020
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) rs72629782 0.00017
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177 0.00011
NM_001267550.2(TTN):c.11113del (p.Arg3705fs) rs746386040 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.39895+1G>T rs749931280 0.00006
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 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_133379.5(TTN):c.16135C>T (p.Pro5379Ser) rs182516675 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.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile) rs763955552 0.00003
NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His) rs544353741 0.00003
NM_001267550.2(TTN):c.9164-2A>T rs777369921 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.12208G>A (p.Glu4070Lys) rs397517830 0.00002
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu) rs193051231 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.12026A>G (p.Tyr4009Cys) rs753367343 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.35338G>A (p.Glu11780Lys) rs2066744414 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.57544+4A>G rs869312053 0.00001
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) rs869312098 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.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.75123T>A (p.Tyr25041Ter) rs753526510 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.98917A>G (p.Ile32973Val) rs773080115 0.00001
NM_133379.5(TTN):c.16529del (p.Val5510fs) rs774991940 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.102630del (p.Lys34210_Val34211insTer) rs869312101
NM_001267550.2(TTN):c.106374+1del rs763404256
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter) rs374300381
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.15776-1G>T rs869312094
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.2841G>T (p.Ser947=) rs774074192
NM_001267550.2(TTN):c.30803-2A>G rs869312089
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala) rs757869762
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.33094+1G>A rs786205398
NM_001267550.2(TTN):c.34132del (p.Leu11378fs) rs869025551
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.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.43631T>C (p.Met14544Thr) rs1576685386
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe) rs771361227
NM_001267550.2(TTN):c.46216G>A (p.Asp15406Asn)
NM_001267550.2(TTN):c.52128del (p.Phe17376fs) rs869312095
NM_001267550.2(TTN):c.5327C>A (p.Thr1776Asn)
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.57847+5_57847+8del rs587782988
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val) rs397517637
NM_001267550.2(TTN):c.60367G>A (p.Glu20123Lys) rs1407608886
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.67159del (p.Ile22386_Ile22387insTer) rs869312092
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter) rs79926414
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) rs869312100
NM_001267550.2(TTN):c.87157A>G (p.Thr29053Ala) rs1702238937
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.9432C>T (p.Gly3144=)
NM_001267550.2(TTN):c.94648G>A (p.Glu31550Lys)
NM_001267550.2(TTN):c.9727C>T (p.Gln3243Ter) rs869312093
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) rs755848026
NM_001267550.2(TTN):c.98054A>G (p.Glu32685Gly)
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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