ClinVar Miner

List of variants in gene MYOM1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_003803.4(MYOM1):c.4340-127G>A rs8096747 0.90713
NM_003803.4(MYOM1):c.3727+106A>G rs6506059 0.90201
NM_003803.4(MYOM1):c.2992-67C>T rs6506068 0.79877
NM_003803.4(MYOM1):c.2991+67G>A rs7505167 0.73927
NM_003803.4(MYOM1):c.2794+99A>G rs8089599 0.72474
NM_003803.4(MYOM1):c.3304-211C>T rs12606145 0.72094
NM_003803.4(MYOM1):c.1501+273C>T rs9303922 0.65991
NM_003803.4(MYOM1):c.4709-266C>T rs7242779 0.58944
NM_003803.4(MYOM1):c.4685+11G>T rs2298539 0.58772
NM_003803.4(MYOM1):c.2384+93A>T rs7505171 0.58116
NM_003803.4(MYOM1):c.5040T>C (p.Gly1680=) rs2230164 0.57606
NM_003803.4(MYOM1):c.3418+176A>G rs8084318 0.56205
NM_003803.4(MYOM1):c.2025+318G>A rs8092956 0.55591
NM_003803.4(MYOM1):c.2025+248C>T rs6506070 0.55417
NM_003803.4(MYOM1):c.4137+269A>G rs4413045 0.54789
NM_003803.4(MYOM1):c.1175-147G>A rs9962984 0.52279
NM_003803.4(MYOM1):c.1643+297G>A rs11874815 0.50540
NM_003803.4(MYOM1):c.1501+147T>C rs9958517 0.46422
NM_003803.4(MYOM1):c.1340-233G>A rs9947129 0.43768
NM_003803.4(MYOM1):c.1340-222C>T rs9946451 0.43741
NM_003803.4(MYOM1):c.3576-5C>T rs7232329 0.36941
NM_003803.4(MYOM1):c.541T>C (p.Ser181Pro) rs1962519 0.36782
NM_003803.4(MYOM1):c.4765-180C>G rs729673 0.36497
NM_003803.4(MYOM1):c.772-225A>G rs12606254 0.36047
NM_003803.4(MYOM1):c.1146C>T (p.His382=) rs2230163 0.33709
NM_003803.4(MYOM1):c.1174+63C>T rs10153407 0.33693
NM_003803.4(MYOM1):c.1112-58G>T rs10153428 0.33658
NM_003803.4(MYOM1):c.1174+120G>A rs10153415 0.33657
NM_003803.4(MYOM1):c.2384+167A>G rs7505146 0.31580
NM_003803.4(MYOM1):c.290+14C>G rs7232679 0.30460
NM_003803.4(MYOM1):c.999G>A (p.Gly333=) rs2230162 0.29399
NM_003803.4(MYOM1):c.1338C>T (p.Asn446=) rs2230167 0.27728
NM_003803.4(MYOM1):c.-9G>A rs1662315 0.26044
NM_003803.4(MYOM1):c.1175-144C>T rs9962246 0.23823
NM_003803.4(MYOM1):c.1392G>A (p.Arg464=) rs11659820 0.21420
NM_003803.4(MYOM1):c.3418+247T>G rs8097626 0.21295
NM_003803.4(MYOM1):c.1111+54C>A rs72860297 0.20925
NM_003803.4(MYOM1):c.1112-20G>A rs17183883 0.20577
NM_003803.4(MYOM1):c.1022+23G>A rs17177479 0.20527
NM_003803.4(MYOM1):c.2991+123T>C rs28622195 0.20006
NM_003803.4(MYOM1):c.2879T>C (p.Ile960Thr) rs1071600 0.19218
NM_003803.4(MYOM1):c.4649-19T>G rs2298537 0.18226
NM_003803.4(MYOM1):c.4662C>T (p.Ala1554=) rs1143657 0.18160
NM_003803.4(MYOM1):c.2384+38T>C rs17177458 0.18061
NM_003803.4(MYOM1):c.4709-289C>T rs73371134 0.17149
NM_003803.4(MYOM1):c.2992-184A>G rs11662315 0.15436
NM_003803.4(MYOM1):c.1643+270A>T rs72860251 0.15146
NM_003803.4(MYOM1):c.4708+195C>T rs11081001 0.14282
NM_003803.4(MYOM1):c.2506+300G>C rs35876933 0.13741
NM_003803.4(MYOM1):c.4686-80A>G rs2298540 0.13487
NM_003803.4(MYOM1):c.1843+156C>T rs62076870 0.13242
NM_003803.4(MYOM1):c.4649-242A>G rs4490075 0.13242
NM_003803.4(MYOM1):c.3418+44G>T rs55779127 0.12944
NM_003803.4(MYOM1):c.4708+243A>G rs12606556 0.12876
NM_003803.4(MYOM1):c.771+133A>G rs113174034 0.11041
NM_003803.4(MYOM1):c.1339+286A>G rs8090876 0.10797
NM_003803.4(MYOM1):c.66G>C (p.Val22=) rs1662316 0.10760
NM_003803.4(MYOM1):c.1339+199T>C rs8087321 0.10434
NM_003803.4(MYOM1):c.1174+221C>T rs10153406 0.10315
NM_003803.4(MYOM1):c.1174+192G>A rs10153413 0.10307
NM_003803.4(MYOM1):c.1339+178T>C rs8087329 0.10286
NM_003803.4(MYOM1):c.771+104T>C rs111506648 0.09484
NM_003803.4(MYOM1):c.432-253A>T rs11664113 0.09398
NM_003803.4(MYOM1):c.771+31A>G rs73375192 0.09385
NM_003803.4(MYOM1):c.660T>C (p.Ser220=) rs2230166 0.09353
NM_003803.4(MYOM1):c.432-84A>G rs11664065 0.09351
NM_003803.4(MYOM1):c.432-85G>T rs11659997 0.09348
NM_003803.4(MYOM1):c.771+242C>T rs112024890 0.09283
NM_003803.4(MYOM1):c.771+205G>A rs113769573 0.09230
NM_003803.4(MYOM1):c.930-245C>T rs10153321 0.08862
NM_003803.4(MYOM1):c.771+263A>G rs73375188 0.08851
NM_003803.4(MYOM1):c.1022+200A>G rs11662700 0.08850
NM_003803.4(MYOM1):c.4339+274A>G rs77932232 0.08313
NM_003803.4(MYOM1):c.4765-46T>C rs7227886 0.08092
NM_003803.4(MYOM1):c.2026-186A>G rs6506069 0.07960
NM_003803.4(MYOM1):c.644C>T (p.Thr215Met) rs2230165 0.07696
NM_003803.4(MYOM1):c.3727+169C>A rs73936915 0.07647
NM_003803.4(MYOM1):c.3865-230A>G rs111854711 0.07011
NM_003803.4(MYOM1):c.4765-200G>A rs74999438 0.06605
NM_003803.4(MYOM1):c.192G>T (p.Ala64=) rs9964300 0.06307
NM_003803.4(MYOM1):c.4222G>A (p.Asp1408Asn) rs3765623 0.05400
NM_003803.4(MYOM1):c.4484+206A>C rs59361258 0.05113
NM_003803.4(MYOM1):c.4358T>C (p.Met1453Thr) rs16944397 0.05084
NM_003803.4(MYOM1):c.4484+212A>G rs61205059 0.04921
NM_003803.4(MYOM1):c.2795-78G>T rs66492053 0.04767
NM_003803.4(MYOM1):c.4708+140G>C rs73936904 0.04741
NM_003803.4(MYOM1):c.3575+311C>T rs34543748 0.04234
NM_003803.4(MYOM1):c.1339+74G>A rs17183876 0.04061
NM_003803.4(MYOM1):c.3119-169C>T rs79933577 0.04002
NM_003803.4(MYOM1):c.3575+178C>T rs116101210 0.02842
NM_003803.4(MYOM1):c.2210-185G>A rs190612161 0.02706
NM_003803.4(MYOM1):c.2795-140C>A rs79522663 0.02515
NM_003803.4(MYOM1):c.3727+193C>G rs115539055 0.02400
NM_003803.4(MYOM1):c.4339+61A>T rs80003627 0.02301
NM_003803.4(MYOM1):c.1643+156T>C rs34628686 0.02228
NM_003803.4(MYOM1):c.929+55T>C rs9953200 0.02044
NM_003803.4(MYOM1):c.1023-32C>T rs78567624 0.01896
NM_003803.4(MYOM1):c.*199T>G rs79987844 0.01856
NM_003803.4(MYOM1):c.431+136A>G rs114617981 0.01851
NM_003803.4(MYOM1):c.1174+124T>C rs11873066 0.01760
NM_003803.4(MYOM1):c.1799A>T (p.Glu600Val) rs9807556 0.01756
NM_003803.4(MYOM1):c.1502-113G>A rs74884432 0.01667
NM_003803.4(MYOM1):c.3419-263C>G rs117267880 0.01286
NM_003803.4(MYOM1):c.3864+37T>C rs116886106 0.01284
NM_003803.4(MYOM1):c.91C>A (p.Arg31=) rs76382984 0.01227
NM_003803.4(MYOM1):c.739G>A (p.Glu247Lys) rs139422575 0.00435
NM_003803.4(MYOM1):c.772-225_772-224insG rs1370710912 0.00340
NM_003803.4(MYOM1):c.461C>T (p.Thr154Met) rs140845661 0.00197
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206 0.00100
NM_003803.4(MYOM1):c.-28-11T>C rs78603353 0.00068
NM_003803.4(MYOM1):c.1052G>A (p.Arg351Gln) rs369420540 0.00029
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln) rs147050513 0.00024
NM_003803.4(MYOM1):c.4711C>T (p.Arg1571Cys) rs373419422 0.00020
NM_003803.4(MYOM1):c.2087G>A (p.Arg696His) rs767192545 0.00015
NM_003803.4(MYOM1):c.1051C>T (p.Arg351Trp) rs375848036 0.00005
NM_003803.4(MYOM1):c.2086C>T (p.Arg696Cys) rs757565820 0.00002
NM_003803.4(MYOM1):c.4007A>T (p.Asp1336Val) rs575609095 0.00002
GRCh37/hg19 18p11.31(chr18:3031247-3082647)x3
NM_003803.4(MYOM1):c.1022G>C (p.Gly341Ala) rs8099021
NM_003803.4(MYOM1):c.1023-280_1023-279dup rs34464336
NM_003803.4(MYOM1):c.1023-288dup rs34464336
NM_003803.4(MYOM1):c.1111+30GT[7] rs35188311
NM_003803.4(MYOM1):c.1111+33_1111+34insTA rs67577394
NM_003803.4(MYOM1):c.113_125dup (p.Ser43fs) rs2144260314
NM_003803.4(MYOM1):c.120C>A (p.Thr40=) rs876657535
NM_003803.4(MYOM1):c.1358C>A (p.Ser453Ter) rs368424215
NM_003803.4(MYOM1):c.1501+241dup rs35202568
NM_003803.4(MYOM1):c.1501+250dup rs1555625522
NM_003803.4(MYOM1):c.1502-326A>G rs187726040
NM_003803.4(MYOM1):c.1643+297GT[14] rs10625884
NM_003803.4(MYOM1):c.1843+191TATTT[4] rs71159050
NM_003803.4(MYOM1):c.1843+191TATTT[7] rs71159050
NM_003803.4(MYOM1):c.2103C>G (p.Asp701Glu)
NM_003803.4(MYOM1):c.2210-142_2210-140dup rs368505930
NM_003803.4(MYOM1):c.2210-142_2210-141dup rs368505930
NM_003803.4(MYOM1):c.2210-274A>G rs10468644
NM_003803.4(MYOM1):c.2384+151G>C rs113420567
NM_003803.4(MYOM1):c.2384+244del rs34366449
NM_003803.4(MYOM1):c.2384+248_2384+252del rs201860252
NM_003803.4(MYOM1):c.2385-100del rs34489383
NM_003803.4(MYOM1):c.2507-22TGT[2] rs147985558
NM_003803.4(MYOM1):c.290+264C>T rs7232192
NM_003803.4(MYOM1):c.2992-45del
NM_003803.4(MYOM1):c.2992-55dup rs367606643
NM_003803.4(MYOM1):c.3304-158G>T rs8097874
NM_003803.4(MYOM1):c.3418+200C>A rs8096115
NM_003803.4(MYOM1):c.3418+200C>T rs8096115
NM_003803.4(MYOM1):c.3418+65C>G rs8096379
NM_003803.4(MYOM1):c.3441T>C (p.Asn1147=) rs1598671900
NM_003803.4(MYOM1):c.3575+215G>C rs35205553
NM_003803.4(MYOM1):c.3636A>T (p.Val1212=) rs760952047
NM_003803.4(MYOM1):c.3728-74del rs36091956
NM_003803.4(MYOM1):c.3728-89del rs373736585
NM_003803.4(MYOM1):c.4137+44_4137+48del rs5822736
NM_003803.4(MYOM1):c.4138-234dup rs143964921
NM_003803.4(MYOM1):c.4138-7C>G rs772811909
NM_003803.4(MYOM1):c.4211A>G (p.His1404Arg)
NM_003803.4(MYOM1):c.4251+240A>G
NM_003803.4(MYOM1):c.4252-62del rs148266515
NM_003803.4(MYOM1):c.4252-72_4252-71dup rs148266515
NM_003803.4(MYOM1):c.4252-72dup rs148266515
NM_003803.4(MYOM1):c.432-275del rs35154072
NM_003803.4(MYOM1):c.432-276_432-275dup rs35154072
NM_003803.4(MYOM1):c.432-289dup rs35154072
NM_003803.4(MYOM1):c.4340-228G>T rs11081003
NM_003803.4(MYOM1):c.4484+188_4484+193del rs59299057
NM_003803.4(MYOM1):c.4484+189_4484+193del rs59299057
NM_003803.4(MYOM1):c.4484+190_4484+193del rs59299057
NM_003803.4(MYOM1):c.4484+191_4484+193del rs59299057
NM_003803.4(MYOM1):c.4484+192_4484+193del rs59299057
NM_003803.4(MYOM1):c.4485-100del rs5822732
NM_003803.4(MYOM1):c.4648+184_4648+185dup rs11408756
NM_003803.4(MYOM1):c.4648+184dup rs11408756
NM_003803.4(MYOM1):c.4649-113G>C rs2298536
NM_003803.4(MYOM1):c.4686-30_4686-29insTTT rs10667835
NM_003803.4(MYOM1):c.4709-166del rs202209077
NM_003803.4(MYOM1):c.4709-179dup rs202209077
NM_003803.4(MYOM1):c.5020G>A (p.Ala1674Thr)
NM_003803.4(MYOM1):c.5041G>C (p.Gly1681Arg)
NM_003803.4(MYOM1):c.64G>C (p.Val22Leu) rs1791085
NM_003803.4(MYOM1):c.771+115del rs140742792
NM_003803.4(MYOM1):c.771+53_771+54dup rs370515800
NM_003803.4(MYOM1):c.771+56GT[10] rs144550875
NM_003803.4(MYOM1):c.771+56GT[12] rs144550875
NM_003803.4(MYOM1):c.771+56GT[14] rs144550875
NM_003803.4(MYOM1):c.772-221del rs763218658
NM_003803.4(MYOM1):c.772-221dup rs763218658
NM_003803.4(MYOM1):c.814C>T (p.His272Tyr) rs1555628272
NM_003803.4(MYOM1):c.930-67_930-66insTA rs34021473
NM_003803.4(MYOM1):c.930-68GT[6] rs202240743
NM_003803.4(MYOM1):c.979ATT[1] (p.Ile328del) rs765548922

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