ClinVar Miner

List of variants studied for dilated cardiomyopathy 1D by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 212
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.163+120T>C rs3729842 0.84150
NM_001276345.2(TNNT2):c.601-32A>C rs1104859 0.73965
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_001276345.2(TNNT2):c.811-122C>G rs45509695 0.22049
NM_001276345.2(TNNT2):c.811-33C>T rs2275863 0.22049
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_001276345.2(TNNT2):c.610-90G>A rs11810834 0.03251
NM_001276345.2(TNNT2):c.*66G>A rs3729998 0.01883
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_001276345.2(TNNT2):c.610-81C>T rs28730745 0.00831
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_001276345.2(TNNT2):c.200-29C>G rs45449197 0.00690
NM_001276345.2(TNNT2):c.53-47C>G rs45553832 0.00345
NM_001276345.2(TNNT2):c.68-5C>T rs540630390 0.00133
NM_001276345.2(TNNT2):c.98-81G>A rs45576939 0.00067
NM_001276345.2(TNNT2):c.852-19C>T rs759855940 0.00011
NM_001276345.2(TNNT2):c.852-23A>G rs371692788 0.00010
NM_001276345.2(TNNT2):c.295-19C>T rs587780969 0.00009
NM_001276345.2(TNNT2):c.774C>T (p.Phe258=) rs397516481 0.00009
NM_001276345.2(TNNT2):c.114G>A (p.Ala38=) rs200283086 0.00006
NM_001276345.2(TNNT2):c.295-14C>T rs747477576 0.00006
NM_001276345.2(TNNT2):c.430C>A (p.Arg144=) rs45525839 0.00006
NM_001276345.2(TNNT2):c.489+18C>T rs377743847 0.00006
NM_001276345.2(TNNT2):c.90C>T (p.Asp30=) rs727503515 0.00006
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=) rs397516474 0.00005
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_001276345.2(TNNT2):c.864C>T (p.Arg288=) rs45503195 0.00005
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678 0.00005
NM_001276345.2(TNNT2):c.10A>C (p.Ile4Leu) rs139705141 0.00004
NM_001276345.2(TNNT2):c.403G>A (p.Asp135Asn) rs765359025 0.00004
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln) rs745632066 0.00004
NM_001276345.2(TNNT2):c.52+13G>A rs376820377 0.00004
NM_001276345.2(TNNT2):c.706G>A (p.Glu236Lys) rs730881107 0.00004
NM_001276345.2(TNNT2):c.720-13C>G rs377714587 0.00004
NM_001276345.2(TNNT2):c.779T>C (p.Leu260Pro) rs376037051 0.00004
NM_001276345.2(TNNT2):c.810+5G>A rs730881113 0.00004
NM_001276345.2(TNNT2):c.882C>T (p.Thr294=) rs45465693 0.00004
NM_001276345.2(TNNT2):c.103G>A (p.Glu35Lys) rs867180029 0.00003
NM_001276345.2(TNNT2):c.411+6T>A rs761043932 0.00003
NM_001276345.2(TNNT2):c.435C>T (p.Ala145=) rs375675827 0.00003
NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys) rs371142225 0.00003
NM_001276345.2(TNNT2):c.552G>A (p.Lys184=) rs566113559 0.00003
NM_001276345.2(TNNT2):c.601-6G>A rs760197357 0.00003
NM_001276345.2(TNNT2):c.609+3G>A rs997358710 0.00003
NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln) rs371047521 0.00003
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val) rs886045828 0.00003
NM_001276345.2(TNNT2):c.721G>C (p.Glu241Gln) rs1189945246 0.00003
NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg) rs147940106 0.00003
NM_001276345.2(TNNT2):c.96C>T (p.Asp32=) rs751728017 0.00003
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly) rs776406819 0.00002
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu) rs144900708 0.00002
NM_001276345.2(TNNT2):c.282A>G (p.Arg94=) rs397516453 0.00002
NM_001276345.2(TNNT2):c.34G>A (p.Glu12Lys) rs760247765 0.00002
NM_001276345.2(TNNT2):c.40G>A (p.Glu14Lys) rs772890125 0.00002
NM_001276345.2(TNNT2):c.100C>A (p.Gln34Lys) rs1350800220 0.00001
NM_001276345.2(TNNT2):c.135G>A (p.Glu45=) rs756174289 0.00001
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447 0.00001
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=) rs746492909 0.00001
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys) rs757526942 0.00001
NM_001276345.2(TNNT2):c.153C>G (p.Thr51=) rs1347127737 0.00001
NM_001276345.2(TNNT2):c.163+13T>C rs527486692 0.00001
NM_001276345.2(TNNT2):c.164-11G>A rs1410150306 0.00001
NM_001276345.2(TNNT2):c.192G>A (p.Glu64=) rs1180516886 0.00001
NM_001276345.2(TNNT2):c.21G>T (p.Val7=) rs777128825 0.00001
NM_001276345.2(TNNT2):c.254T>G (p.Val85Gly) rs730881095 0.00001
NM_001276345.2(TNNT2):c.255G>A (p.Val85=) rs780115529 0.00001
NM_001276345.2(TNNT2):c.281dup (p.Val95fs) rs780087395 0.00001
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001276345.2(TNNT2):c.349G>A (p.Glu117Lys) rs730881099 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.390C>T (p.Leu130=) rs758543857 0.00001
NM_001276345.2(TNNT2):c.404A>T (p.Asp135Val) rs759758840 0.00001
NM_001276345.2(TNNT2):c.412-14C>A rs745721749 0.00001
NM_001276345.2(TNNT2):c.412G>A (p.Glu138Lys) rs730881100 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.419G>A (p.Arg140His) rs1339922051 0.00001
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=) rs200604266 0.00001
NM_001276345.2(TNNT2):c.459G>A (p.Glu153=) rs775274966 0.00001
NM_001276345.2(TNNT2):c.472C>T (p.Arg158Trp) rs730881123 0.00001
NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln) rs730881102 0.00001
NM_001276345.2(TNNT2):c.482G>A (p.Arg161His) rs201048783 0.00001
NM_001276345.2(TNNT2):c.487G>T (p.Ala163Ser) rs727505030 0.00001
NM_001276345.2(TNNT2):c.522C>T (p.Asn174=) rs483352833 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys) rs150008205 0.00001
NM_001276345.2(TNNT2):c.659A>T (p.Lys220Met) rs190805300 0.00001
NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys) rs1205564576 0.00001
NM_001276345.2(TNNT2):c.720-14C>A rs761998371 0.00001
NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys) rs200500421 0.00001
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn) rs141805127 0.00001
NM_001276345.2(TNNT2):c.778C>T (p.Leu260=) rs977853063 0.00001
NM_001276345.2(TNNT2):c.810+1G>A rs113874623 0.00001
NM_001276345.2(TNNT2):c.815A>G (p.Asn272Ser) rs397516483 0.00001
NM_001276345.2(TNNT2):c.835A>G (p.Asn279Asp) rs4523540 0.00001
NM_001276345.2(TNNT2):c.852-18G>A rs778928540 0.00001
NM_001276345.2(TNNT2):c.861C>A (p.Thr287=) rs754211195 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001276345.2(TNNT2):c.97G>T (p.Glu33Ter) rs377474357 0.00001
NC_000001.11:g.201369848_201369850delinsAA rs397516362
NM_001276345.2(TNNT2):c.-1C>A rs776936911
NM_001276345.2(TNNT2):c.-1C>T rs776936911
NM_001276345.2(TNNT2):c.-5A>G rs730881093
NM_001276345.2(TNNT2):c.104A>T (p.Glu35Val)
NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn) rs748078123
NM_001276345.2(TNNT2):c.124G>A (p.Ala42Thr) rs1571649102
NM_001276345.2(TNNT2):c.163+12G>T rs45580032
NM_001276345.2(TNNT2):c.163+2T>C
NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter) rs730881120
NM_001276345.2(TNNT2):c.164-50G>A rs3729843
NM_001276345.2(TNNT2):c.175G>A (p.Glu59Lys) rs568628521
NM_001276345.2(TNNT2):c.200-6C>T rs1659750096
NM_001276345.2(TNNT2):c.207A>G (p.Pro69=) rs531954320
NM_001276345.2(TNNT2):c.216G>A (p.Glu72=) rs2102273980
NM_001276345.2(TNNT2):c.228G>A (p.Lys76=) rs727504869
NM_001276345.2(TNNT2):c.233+3G>A
NM_001276345.2(TNNT2):c.234-10T>C rs1342160801
NM_001276345.2(TNNT2):c.237G>T (p.Ser79=) rs3729845
NM_001276345.2(TNNT2):c.238T>C (p.Phe80Leu) rs886039053
NM_001276345.2(TNNT2):c.248A>C (p.Asn83Thr)
NM_001276345.2(TNNT2):c.255G>T (p.Val85=) rs780115529
NM_001276345.2(TNNT2):c.262A>G (p.Lys88Glu) rs1659525886
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.268C>A (p.Pro90Thr) rs397516451
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.271G>A (p.Asp91Asn) rs1571630555
NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg) rs727504255
NM_001276345.2(TNNT2):c.282A>T (p.Arg94Ser) rs397516453
NM_001276345.2(TNNT2):c.282_283del (p.Arg94fs) rs1259701355
NM_001276345.2(TNNT2):c.294+5G>A rs533357783
NM_001276345.2(TNNT2):c.295-1G>A rs113876817
NM_001276345.2(TNNT2):c.298A>G (p.Ile100Val)
NM_001276345.2(TNNT2):c.301C>T (p.His101Tyr) rs2102262282
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val) rs397516458
NM_001276345.2(TNNT2):c.321G>A (p.Lys107=) rs397516459
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)
NM_001276345.2(TNNT2):c.333G>C (p.Glu111Asp) rs1659441464
NM_001276345.2(TNNT2):c.342G>A (p.Ala114=) rs918054429
NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr) rs1553282523
NM_001276345.2(TNNT2):c.351G>A (p.Glu117=) rs1659436211
NM_001276345.2(TNNT2):c.357C>T (p.His119=)
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) rs121964858
NM_001276345.2(TNNT2):c.388C>G (p.Leu130Val)
NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile) rs1289914935
NM_001276345.2(TNNT2):c.408G>C (p.Arg136Ser) rs2102260528
NM_001276345.2(TNNT2):c.41+6dup rs1479180367
NM_001276345.2(TNNT2):c.412-6_412-4del rs397516462
NM_001276345.2(TNNT2):c.412-94del rs35559054
NM_001276345.2(TNNT2):c.42-6T>C rs1660720268
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) rs397516464
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) rs397516464
NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln) rs1316344347
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) rs45525839
NM_001276345.2(TNNT2):c.441G>A (p.Gln147=) rs1044313920
NM_001276345.2(TNNT2):c.444G>A (p.Gln148=) rs2102253556
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) rs74315379
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.453G>C (p.Arg151=) rs786204406
NM_001276345.2(TNNT2):c.463G>A (p.Glu155Lys) rs984218824
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys) rs45608937
NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter) rs1558225837
NM_001276345.2(TNNT2):c.518A>G (p.Glu173Gly) rs780067626
NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys) rs483352833
NM_001276345.2(TNNT2):c.529A>G (p.Lys177Glu) rs2102245349
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.550AAG[2] (p.Lys186del) rs1558225172
NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe) rs201270895
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.570C>T (p.Asn190=) rs764636823
NM_001276345.2(TNNT2):c.572T>C (p.Met191Thr) rs869025538
NM_001276345.2(TNNT2):c.593T>C (p.Ile198Thr) rs878854148
NM_001276345.2(TNNT2):c.611C>T (p.Thr204Ile) rs2102235172
NM_001276345.2(TNNT2):c.614A>G (p.Glu205Gly) rs1658740460
NM_001276345.2(TNNT2):c.614_615del (p.Glu205fs) rs760664767
NM_001276345.2(TNNT2):c.620A>G (p.Lys207Arg)
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.712C>G (p.Gln238Glu) rs730881108
NM_001276345.2(TNNT2):c.719+13A>C rs563883763
NM_001276345.2(TNNT2):c.719G>A (p.Arg240Lys) rs2102233852
NM_001276345.2(TNNT2):c.720-10G>A rs2102229886
NM_001276345.2(TNNT2):c.720-6G>T rs113471285
NM_001276345.2(TNNT2):c.772T>C (p.Phe258Leu) rs730881110
NM_001276345.2(TNNT2):c.772T>G (p.Phe258Val) rs730881110
NM_001276345.2(TNNT2):c.805T>C (p.Tyr269His) rs730881112
NM_001276345.2(TNNT2):c.806A>G (p.Tyr269Cys) rs1553280112
NM_001276345.2(TNNT2):c.808G>A (p.Glu270Lys) rs1131691898
NM_001276345.2(TNNT2):c.812T>G (p.Ile271Ser) rs371384395
NM_001276345.2(TNNT2):c.824G>A (p.Arg275Gln) rs730881125
NM_001276345.2(TNNT2):c.834C>T (p.Ile278=) rs1278830616
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn) rs121964861
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter) rs796925245
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001276345.2(TNNT2):c.851+1G>T rs111377893
NM_001276345.2(TNNT2):c.852-1G>T rs730881114
NM_001276345.2(TNNT2):c.865G>A (p.Gly289Arg) rs757664792
NM_001276345.2(TNNT2):c.866G>A (p.Gly289Glu) rs727505233
NM_001276345.2(TNNT2):c.884G>A (p.Gly295Glu) rs1272169178
NM_001276345.2(TNNT2):c.885G>A (p.Gly295=) rs2102212901
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) rs730881116
NM_001276345.2(TNNT2):c.897G>A (p.Ter299=) rs1311267989

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