ClinVar Miner

List of variants in gene TPM3 studied for TPM3-related myopathy

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 315
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.776-49T>C rs4845364 0.62465
NM_152263.4(TPM3):c.*2185C>T rs10908723 0.31228
NM_152263.4(TPM3):c.*4968A>G rs4446955 0.30357
NM_152263.4(TPM3):c.*1032T>G rs6673171 0.29627
NM_152263.4(TPM3):c.*5856T>G rs3196889 0.29506
NM_152263.4(TPM3):c.*3248G>A rs12026177 0.15247
NM_152263.4(TPM3):c.*2719G>A rs11265201 0.14345
NM_152263.4(TPM3):c.*2565G>A rs6661996 0.14338
NM_152263.4(TPM3):c.*2784C>T rs9628669 0.14320
NM_152263.4(TPM3):c.*3822G>T rs12063890 0.13205
NM_152263.4(TPM3):c.*2211A>C rs6672584 0.12577
NM_152263.4(TPM3):c.*389G>A rs74731791 0.01922
NM_152263.4(TPM3):c.*2409G>C rs142369480 0.01426
NM_152263.4(TPM3):c.*1791G>A rs114799756 0.01222
NM_152263.4(TPM3):c.*4333A>G rs34629044 0.01027
NM_152263.4(TPM3):c.*4062G>A rs140590273 0.00864
NM_152263.4(TPM3):c.*5149G>A rs78002555 0.00816
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_152263.4(TPM3):c.*2069C>T rs140536164 0.00588
NM_152263.4(TPM3):c.*4154C>T rs145053113 0.00572
NM_152263.4(TPM3):c.566+18C>G rs111368844 0.00505
NM_152263.4(TPM3):c.*3497T>C rs144544045 0.00465
NM_152263.4(TPM3):c.*878A>G rs116789181 0.00321
NM_152263.4(TPM3):c.*780A>G rs185779007 0.00287
NM_152263.4(TPM3):c.*5640C>T rs564296987 0.00257
NM_152263.4(TPM3):c.*656C>T rs12064261 0.00233
NM_152263.4(TPM3):c.*4876C>T rs141628385 0.00178
NM_152263.4(TPM3):c.*3819G>A rs190553185 0.00168
NM_152263.4(TPM3):c.*4095G>A rs559852699 0.00145
NM_152263.4(TPM3):c.*5440A>C rs12064494 0.00136
NM_152263.4(TPM3):c.*5577C>T rs886045287 0.00129
NM_152263.4(TPM3):c.*4806A>C rs186291812 0.00093
NM_152263.4(TPM3):c.*2152C>T rs1363684144 0.00065
NM_152263.4(TPM3):c.*3756C>A rs555633635 0.00060
NM_152263.4(TPM3):c.*999G>A rs565913061 0.00057
NM_152263.4(TPM3):c.*157C>T rs144482403 0.00047
NM_152263.4(TPM3):c.*4302A>G rs886045298 0.00047
NM_152263.4(TPM3):c.*1077A>C rs557217738 0.00045
NM_152263.4(TPM3):c.*6097G>T rs576691614 0.00035
NM_152263.4(TPM3):c.*2138T>C rs566002553 0.00031
NM_152263.4(TPM3):c.*4443G>T rs139123540 0.00025
NM_152263.4(TPM3):c.*4541T>A rs886045294 0.00024
NM_152263.4(TPM3):c.*5755A>G rs777522493 0.00022
NM_152263.4(TPM3):c.*962C>T rs564047493 0.00021
NM_152263.4(TPM3):c.804C>T (p.Tyr268=) rs762511246 0.00020
NM_152263.4(TPM3):c.249G>A (p.Glu83=) rs149765446 0.00019
NM_152263.4(TPM3):c.*5701C>T rs373631033 0.00018
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe) rs142817656 0.00016
NM_152263.4(TPM3):c.*5658G>A rs547577437 0.00015
NM_152263.4(TPM3):c.*482C>T rs886045313 0.00014
NM_152263.4(TPM3):c.*1661C>T rs575927755 0.00012
NM_152263.4(TPM3):c.*32C>T rs141699072 0.00011
NM_152263.4(TPM3):c.*3481C>T rs753333464 0.00010
NM_152263.4(TPM3):c.*2015T>C rs758111582 0.00009
NM_152263.4(TPM3):c.*5795C>T rs981377315 0.00009
NM_152263.4(TPM3):c.*4924C>T rs1036320708 0.00008
NM_152263.4(TPM3):c.*5500C>G rs973966350 0.00008
NM_152263.4(TPM3):c.*1291A>G rs375670563 0.00006
NM_152263.4(TPM3):c.*1967C>T rs910205963 0.00006
NM_152263.4(TPM3):c.144G>A (p.Gln48=) rs765923858 0.00006
NM_152263.4(TPM3):c.60G>A (p.Leu20=) rs770751758 0.00006
NM_152263.4(TPM3):c.*2298T>C rs201157203 0.00005
NM_152263.4(TPM3):c.*974C>T rs534731616 0.00005
NM_152263.4(TPM3):c.327T>G (p.Thr109=) rs764255899 0.00005
NM_152263.4(TPM3):c.*2220T>C rs886045306 0.00004
NM_152263.4(TPM3):c.*2544C>T rs968828245 0.00004
NM_152263.4(TPM3):c.*2652C>T rs555966358 0.00004
NM_152263.4(TPM3):c.*4203G>A rs886045299 0.00004
NM_152263.4(TPM3):c.*4389G>T rs886045297 0.00004
NM_152263.4(TPM3):c.*489T>G rs886045312 0.00004
NM_152263.4(TPM3):c.*4930G>A rs995544936 0.00004
NM_152263.4(TPM3):c.36G>A (p.Leu12=) rs748116674 0.00004
NM_152263.4(TPM3):c.495+7G>C rs749792884 0.00004
NM_152263.4(TPM3):c.*2101T>C rs151275058 0.00003
NM_152263.4(TPM3):c.*2423G>A rs1243423616 0.00003
NM_152263.4(TPM3):c.*303A>C rs555108967 0.00003
NM_152263.4(TPM3):c.*903C>T rs545353984 0.00003
NM_152263.4(TPM3):c.706-8T>G rs1273121877 0.00003
NM_152263.4(TPM3):c.831C>T (p.His277=) rs781032589 0.00003
NM_152263.4(TPM3):c.*1447G>A rs1005684992 0.00002
NM_152263.4(TPM3):c.*3298A>G rs946669485 0.00002
NM_152263.4(TPM3):c.*3860C>T rs763202740 0.00002
NM_152263.4(TPM3):c.*406T>C rs886045314 0.00002
NM_152263.4(TPM3):c.*4513G>A rs886045296 0.00002
NM_152263.4(TPM3):c.*499C>A rs745782085 0.00002
NM_152263.4(TPM3):c.231G>A (p.Lys77=) rs761461964 0.00002
NM_152263.4(TPM3):c.234G>A (p.Lys78=) rs888396890 0.00002
NM_152263.4(TPM3):c.378-13C>T rs367548433 0.00002
NM_152263.4(TPM3):c.777T>C (p.Asp259=) rs767812868 0.00002
NM_152263.4(TPM3):c.855-1G>A rs113605263 0.00002
NM_152263.4(TPM3):c.86A>C (p.Glu29Ala) rs1049537934 0.00002
NM_152263.4(TPM3):c.*1097C>T rs886045310 0.00001
NM_152263.4(TPM3):c.*1152C>T rs535068015 0.00001
NM_152263.4(TPM3):c.*1521G>T rs949522786 0.00001
NM_152263.4(TPM3):c.*1652G>A rs543538969 0.00001
NM_152263.4(TPM3):c.*2053G>C rs969372773 0.00001
NM_152263.4(TPM3):c.*2116T>C rs886045307 0.00001
NM_152263.4(TPM3):c.*2240C>T rs561949016 0.00001
NM_152263.4(TPM3):c.*254G>A rs1286827899 0.00001
NM_152263.4(TPM3):c.*2630T>A rs767983989 0.00001
NM_152263.4(TPM3):c.*283G>C rs886045316 0.00001
NM_152263.4(TPM3):c.*312A>G rs1251165733 0.00001
NM_152263.4(TPM3):c.*4287A>G rs1383649289 0.00001
NM_152263.4(TPM3):c.*4525G>T rs886045295 0.00001
NM_152263.4(TPM3):c.*46C>T rs777118586 0.00001
NM_152263.4(TPM3):c.*4872A>G rs1660550689 0.00001
NM_152263.4(TPM3):c.*4940C>G rs562373211 0.00001
NM_152263.4(TPM3):c.*5437G>A rs929840818 0.00001
NM_152263.4(TPM3):c.*5901G>C rs1287850337 0.00001
NM_152263.4(TPM3):c.*88G>T rs1306456266 0.00001
NM_152263.4(TPM3):c.172C>T (p.Leu58=) rs997905094 0.00001
NM_152263.4(TPM3):c.210G>A (p.Glu70=) rs767668245 0.00001
NM_152263.4(TPM3):c.228G>A (p.Glu76=) rs765071258 0.00001
NM_152263.4(TPM3):c.246T>C (p.Ala82=) rs751578993 0.00001
NM_152263.4(TPM3):c.339G>A (p.Lys113=) rs548951753 0.00001
NM_152263.4(TPM3):c.340C>T (p.Leu114=) rs760913266 0.00001
NM_152263.4(TPM3):c.483G>A (p.Arg161=) rs150586027 0.00001
NM_152263.4(TPM3):c.546A>G (p.Glu182=) rs762856025 0.00001
NM_152263.4(TPM3):c.567-4A>C rs199517163 0.00001
NM_152263.4(TPM3):c.615C>G (p.Leu205=) rs1131561 0.00001
NM_152263.4(TPM3):c.642+4G>T rs1462764945 0.00001
NM_152263.4(TPM3):c.643-3C>T rs529845435 0.00001
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln) rs1553251640 0.00001
NM_152263.4(TPM3):c.680A>G (p.Lys227Arg) rs201202440 0.00001
NM_152263.4(TPM3):c.705+19T>C rs765448962 0.00001
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr) rs761036509 0.00001
NM_152263.4(TPM3):c.776-8C>T rs760834004 0.00001
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly) rs1455676920 0.00001
NM_152263.4(TPM3):c.816C>G (p.Ser272Arg) rs536564074 0.00001
NM_152263.4(TPM3):c.816C>T (p.Ser272=) rs536564074 0.00001
NM_152263.4(TPM3):c.829C>A (p.His277Asn) rs747794605 0.00001
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr) rs377438824 0.00001
NM_152263.4(TPM3):c.835C>G (p.Leu279Val) rs186253666 0.00001
NM_152263.4(TPM3):c.844A>G (p.Met282Val) rs1661325667 0.00001
NM_152263.4(TPM3):c.849C>T (p.Thr283=) rs758366885 0.00001
NM_152263.4(TPM3):c.853A>G (p.Ile285Val) rs758557977 0.00001
NM_152263.4(TPM3):c.854+20G>A rs1300002756 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NC_000001.10:g.(?_154140413)_(154164494_?)dup
NC_000001.10:g.(?_154141771)_(154148734_?)del
NC_000001.10:g.(?_154148571)_(154148744_?)dup
NC_000001.10:g.(?_154163642)_(154164494_?)del
NC_000001.11:g.(?_154191166)_(154192038_?)del
NM_001278188.2(TPM3):c.69-3046CTGAGG[3]
NM_152263.4(TPM3):c.*1093T>C rs886045311
NM_152263.4(TPM3):c.*1130C>T rs143058197
NM_152263.4(TPM3):c.*1246_*1247dup rs72189266
NM_152263.4(TPM3):c.*1247dup rs72189266
NM_152263.4(TPM3):c.*1359G>T rs563700738
NM_152263.4(TPM3):c.*1397A>G rs1660988364
NM_152263.4(TPM3):c.*1964A>G rs886045309
NM_152263.4(TPM3):c.*2035C>T rs886045308
NM_152263.4(TPM3):c.*2130del rs370257288
NM_152263.4(TPM3):c.*2147del rs68185418
NM_152263.4(TPM3):c.*2295T>C rs1261513379
NM_152263.4(TPM3):c.*2597G>T rs886045305
NM_152263.4(TPM3):c.*2675T>C rs886045304
NM_152263.4(TPM3):c.*2757C>G rs897434039
NM_152263.4(TPM3):c.*2774G>C rs886045303
NM_152263.4(TPM3):c.*3015G>A rs1207872451
NM_152263.4(TPM3):c.*325G>A rs886045315
NM_152263.4(TPM3):c.*3558G>A rs886045302
NM_152263.4(TPM3):c.*3756dup rs574252210
NM_152263.4(TPM3):c.*3807G>T rs886045301
NM_152263.4(TPM3):c.*3872T>C rs1571372689
NM_152263.4(TPM3):c.*4194G>A rs886045300
NM_152263.4(TPM3):c.*41C>G rs886045318
NM_152263.4(TPM3):c.*4423G>A rs373468102
NM_152263.4(TPM3):c.*4574_*4578del rs886045293
NM_152263.4(TPM3):c.*4636G>A rs886045292
NM_152263.4(TPM3):c.*5028_*5029dup rs886045291
NM_152263.4(TPM3):c.*5204C>T rs1660513178
NM_152263.4(TPM3):c.*5239C>T rs1020851805
NM_152263.4(TPM3):c.*5266T>G rs143097126
NM_152263.4(TPM3):c.*5406A>G rs1039422203
NM_152263.4(TPM3):c.*5549GT[1] rs886045290
NM_152263.4(TPM3):c.*5572dup rs58289686
NM_152263.4(TPM3):c.*5573GA[1] rs886045288
NM_152263.4(TPM3):c.*5583C>T rs886045286
NM_152263.4(TPM3):c.*5594G>T rs550606876
NM_152263.4(TPM3):c.*5715C>T rs527401847
NM_152263.4(TPM3):c.*5865A>G rs1159409765
NM_152263.4(TPM3):c.*5870A>T rs890715632
NM_152263.4(TPM3):c.*5926T>C rs886045285
NM_152263.4(TPM3):c.*61C>A rs886045317
NM_152263.4(TPM3):c.*958C>T rs577888532
NM_152263.4(TPM3):c.117+14T>C
NM_152263.4(TPM3):c.118-11G>C
NM_152263.4(TPM3):c.118-12G>A
NM_152263.4(TPM3):c.118-20G>C
NM_152263.4(TPM3):c.118-3T>C rs375206251
NM_152263.4(TPM3):c.118-3_118-2del
NM_152263.4(TPM3):c.118C>G (p.Leu40Val) rs1160675914
NM_152263.4(TPM3):c.118C>T (p.Leu40=)
NM_152263.4(TPM3):c.11C>T (p.Ala4Val) rs199474711
NM_152263.4(TPM3):c.124G>A (p.Asp42Asn) rs1663671899
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
NM_152263.4(TPM3):c.159G>A (p.Gly53=)
NM_152263.4(TPM3):c.163G>A (p.Glu55Lys) rs2148294608
NM_152263.4(TPM3):c.171G>A (p.Glu57=)
NM_152263.4(TPM3):c.175G>A (p.Asp59Asn)
NM_152263.4(TPM3):c.185_193del (p.Ser62_Ala64del)
NM_152263.4(TPM3):c.19A>G (p.Lys7Glu)
NM_152263.4(TPM3):c.212A>T (p.Lys71Met) rs2148294477
NM_152263.4(TPM3):c.229AAG[1] (p.Lys78del) rs2148294430
NM_152263.4(TPM3):c.235G>C (p.Ala79Pro)
NM_152263.4(TPM3):c.243+11GA[2] rs146969764
NM_152263.4(TPM3):c.243+17T>C
NM_152263.4(TPM3):c.243+1G>A
NM_152263.4(TPM3):c.245C>T (p.Ala82Val)
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro) rs1558052214
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly) rs1571418855
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys) rs1571418855
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro) rs199474713
NM_152263.4(TPM3):c.273T>C (p.Arg91=) rs974189739
NM_152263.4(TPM3):c.273_281del (p.Arg92_Gln94del)
NM_152263.4(TPM3):c.298C>A (p.Leu100Met) rs121964853
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.301G>A (p.Asp101Asn) rs2148257542
NM_152263.4(TPM3):c.317G>A (p.Arg106His)
NM_152263.4(TPM3):c.324C>T (p.Ala108=) rs1034128909
NM_152263.4(TPM3):c.329C>T (p.Ala110Val) rs1558052023
NM_152263.4(TPM3):c.346G>A (p.Glu116Lys)
NM_152263.4(TPM3):c.36G>C (p.Leu12=)
NM_152263.4(TPM3):c.377+863_775+422del
NM_152263.4(TPM3):c.378-11A>G
NM_152263.4(TPM3):c.378-11A>T
NM_152263.4(TPM3):c.378-16G>T rs2148242406
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln) rs769493959
NM_152263.4(TPM3):c.412G>C (p.Asp138His) rs2148242185
NM_152263.4(TPM3):c.41T>G (p.Leu14Ter)
NM_152263.4(TPM3):c.423G>A (p.Lys141=) rs2148242145
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) rs1553251644
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.44A>T (p.Asp15Val) rs2148295444
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)
NM_152263.4(TPM3):c.455C>T (p.Ala152Val) rs1553249076
NM_152263.4(TPM3):c.466G>A (p.Ala156Thr) rs199474714
NM_152263.4(TPM3):c.480T>A (p.Asp160Glu) rs1030128563
NM_152263.4(TPM3):c.494A>G (p.Glu165Gly) rs1661790334
NM_152263.4(TPM3):c.495+10C>G rs1043806769
NM_152263.4(TPM3):c.495+12T>G
NM_152263.4(TPM3):c.495+13C>T rs2148241904
NM_152263.4(TPM3):c.495+9C>G rs1661789594
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.503G>T (p.Arg168Leu)
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu) rs199474715
NM_152263.4(TPM3):c.510G>A (p.Leu170=)
NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter) rs727504181
NM_152263.4(TPM3):c.552T>C (p.Ala184=)
NM_152263.4(TPM3):c.556C>T (p.Leu186=) rs1203258070
NM_152263.4(TPM3):c.566+13C>T
NM_152263.4(TPM3):c.589_590delinsAT (p.Glu197Met) rs2148235398
NM_152263.4(TPM3):c.591G>A (p.Glu197=)
NM_152263.4(TPM3):c.59T>C (p.Leu20Pro) rs1663698070
NM_152263.4(TPM3):c.612C>T (p.Asn204=)
NM_152263.4(TPM3):c.621T>G (p.Ser207=)
NM_152263.4(TPM3):c.635C>T (p.Ala212Val)
NM_152263.4(TPM3):c.636G>A (p.Ala212=)
NM_152263.4(TPM3):c.642+2T>C
NM_152263.4(TPM3):c.642+8C>G
NM_152263.4(TPM3):c.643-13A>C
NM_152263.4(TPM3):c.643-8_643-4del
NM_152263.4(TPM3):c.687T>C (p.Leu229=)
NM_152263.4(TPM3):c.705+12G>T
NM_152263.4(TPM3):c.706-11A>G rs752438266
NM_152263.4(TPM3):c.706-13A>G
NM_152263.4(TPM3):c.706-2dup rs1085307588
NM_152263.4(TPM3):c.706-3C>T rs750493083
NM_152263.4(TPM3):c.706-4C>T rs2148231499
NM_152263.4(TPM3):c.706-5C>G
NM_152263.4(TPM3):c.706-6C>T rs1661447571
NM_152263.4(TPM3):c.706-9T>A rs931328025
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys) rs1661445206
NM_152263.4(TPM3):c.714C>G (p.Thr238=)
NM_152263.4(TPM3):c.716G>A (p.Arg239His)
NM_152263.4(TPM3):c.721G>A (p.Glu241Lys) rs199474717
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly) rs199474718
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu) rs1553248522
NM_152263.4(TPM3):c.753A>G (p.Glu251=)
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) rs1553248515
NM_152263.4(TPM3):c.760A>G (p.Ile254Val) rs1553248513
NM_152263.4(TPM3):c.763G>A (p.Asp255Asn)
NM_152263.4(TPM3):c.775+15G>C
NM_152263.4(TPM3):c.775+6G>T
NM_152263.4(TPM3):c.775+7A>G
NM_152263.4(TPM3):c.776-14C>T rs943685377
NM_152263.4(TPM3):c.776-15C>T
NM_152263.4(TPM3):c.776-18G>T
NM_152263.4(TPM3):c.776-6G>A
NM_152263.4(TPM3):c.776-6G>C
NM_152263.4(TPM3):c.780G>A (p.Glu260=) rs1661333585
NM_152263.4(TPM3):c.796C>T (p.Leu266=) rs189530777
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) rs1571456678
NM_152263.4(TPM3):c.821A>C (p.Glu274Ala)
NM_152263.4(TPM3):c.854+1G>A rs113367027
NM_152263.4(TPM3):c.854+8T>C
NM_152263.4(TPM3):c.855-19T>G
NM_152263.4(TPM3):c.855-20A>G
NM_152263.4(TPM3):c.855-6A>T rs2148221842
NM_152263.4(TPM3):c.855-8T>A
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) rs199474719
NM_152263.4(TPM3):c.85G>A (p.Glu29Lys) rs1663696530
NM_152263.4(TPM3):c.87_91del (p.Gln30fs) rs2148295371
NM_152263.4(TPM3):c.88C>G (p.Gln30Glu) rs1160965388
NM_152263.4(TPM3):c.8A>C (p.Glu3Ala)
NM_152263.4(TPM3):c.8A>G (p.Glu3Gly)
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248
NM_152263.4:c.(377+1_387-1)_(566+1_567-1)del

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