ClinVar Miner

List of variants studied for TPM3-related myopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 173
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.-65T>C rs605430 0.63378
NM_001100.4(ACTA1):c.-66C>T rs605428 0.63361
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_001100.4(ACTA1):c.130-5T>C rs11803533 0.26938
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
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_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
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_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
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.*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_001100.4(ACTA1):c.*248G>A rs551585351 0.00167
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_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
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_001100.4(ACTA1):c.1125A>G (p.Lys375=) rs142311664 0.00050
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_001100.4(ACTA1):c.786G>C (p.Thr262=) rs141030526 0.00034
NM_152263.4(TPM3):c.*2138T>C rs566002553 0.00031
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
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.*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_001100.4(ACTA1):c.867C>T (p.Ile289=) rs140074813 0.00009
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.*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.495+7G>C rs749792884 0.00004
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) rs371410845 0.00003
NM_001100.4(ACTA1):c.809-14_809-13insA rs749384329 0.00003
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_001100.4(ACTA1):c.809-16_809-15insG rs746125735 0.00002
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.378-13C>T rs367548433 0.00002
NM_001100.4(ACTA1):c.*66G>A rs1403018747 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) rs770931836 0.00001
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.567-4A>C rs199517163 0.00001
NM_001100.4(ACTA1):c.-66_-65delinsTC rs386640096
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met) rs886046075
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) rs1659932688
NM_001100.4(ACTA1):c.129+14T>C rs886046076
NM_001100.4(ACTA1):c.453C>G (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.480C>A (p.Gly160=) rs1571893385
NM_001100.4(ACTA1):c.809-13_809-12dup rs201427429
NM_001100.4(ACTA1):c.809-13dup rs201427429
NM_001100.4(ACTA1):c.809-14G>C rs6673359
NM_001100.4(ACTA1):c.81C>T (p.Asp27=) rs1553255533
NM_001100.4(ACTA1):c.966G>A (p.Leu322=) rs765996798
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.243+11GA[2] rs146969764
NM_152263.4(TPM3):c.324C>T (p.Ala108=) rs1034128909
NM_152263.4(TPM3):c.776-14C>T rs943685377

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