ClinVar Miner

List of variants in gene MYO3A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 329
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HGVS dbSNP gnomAD frequency
NM_017433.5(MYO3A):c.3398+230T>C rs10741107 0.84111
NM_017433.5(MYO3A):c.168+249G>A rs7923691 0.72009
NM_017433.5(MYO3A):c.2716-29G>A rs3818956 0.70675
NM_017433.5(MYO3A):c.1105G>A (p.Val369Ile) rs3817420 0.69434
NM_017433.5(MYO3A):c.1042A>G (p.Ile348Val) rs3824699 0.68769
NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser) rs1999240 0.60118
NM_017433.5(MYO3A):c.3399-129T>A rs1330575 0.58041
NM_017433.5(MYO3A):c.2867G>A (p.Ser956Asn) rs3758449 0.51636
NM_017433.5(MYO3A):c.1360-253A>G rs11812518 0.48224
NM_017433.5(MYO3A):c.1054-299G>C rs12773390 0.47644
NM_017433.5(MYO3A):c.1053+191A>T rs61846589 0.47639
NM_017433.5(MYO3A):c.1053+63C>T rs3824695 0.47635
NM_017433.5(MYO3A):c.1171-127G>A rs3758443 0.47633
NM_017433.5(MYO3A):c.1170+7C>T rs3817419 0.47630
NM_017433.5(MYO3A):c.956G>A (p.Arg319His) rs3824700 0.47622
NM_017433.5(MYO3A):c.1053+34C>T rs3824696 0.47612
NM_017433.5(MYO3A):c.954-133C>A rs3824703 0.47612
NM_017433.5(MYO3A):c.1170+188G>C rs7095515 0.47605
NM_017433.5(MYO3A):c.1171-342C>G rs12248210 0.47601
NM_017433.5(MYO3A):c.1171-168T>C rs3758444 0.47599
NM_017433.5(MYO3A):c.1054-247C>T rs12774889 0.47598
NM_017433.5(MYO3A):c.1054-72T>C rs3817421 0.47594
NM_017433.5(MYO3A):c.1053+274T>C rs61846590 0.47587
NM_017433.5(MYO3A):c.1170+158A>G rs3817418 0.47584
NM_017433.5(MYO3A):c.1170+297A>G rs3817417 0.47580
NM_017433.5(MYO3A):c.954-183T>C rs3824705 0.47569
NM_017433.5(MYO3A):c.954-170A>G rs3824704 0.47563
NM_017433.5(MYO3A):c.1104C>T (p.Tyr368=) rs35379457 0.47540
NM_017433.5(MYO3A):c.1053+11C>T rs3824698 0.47508
NM_017433.5(MYO3A):c.1053+12A>G rs3824697 0.47492
NM_017433.5(MYO3A):c.1054-138G>A rs7477386 0.47484
NM_017433.5(MYO3A):c.1054-124G>A rs35636005 0.47480
NM_017433.5(MYO3A):c.954-42G>T rs3824702 0.47457
NM_017433.5(MYO3A):c.954-32A>G rs3824701 0.47455
NM_017433.5(MYO3A):c.1170+328G>T rs7095668 0.47441
NM_017433.5(MYO3A):c.586-22T>C rs3737275 0.43457
NM_017433.5(MYO3A):c.2506-72G>T rs2368158 0.41713
NM_017433.5(MYO3A):c.2794-205T>A rs7084000 0.40604
NM_017433.5(MYO3A):c.2262+64T>G rs17739425 0.39961
NM_017433.5(MYO3A):c.3850A>T (p.Thr1284Ser) rs3740231 0.39847
NM_017433.5(MYO3A):c.731+102A>C rs17666079 0.37631
NM_017433.5(MYO3A):c.2999+225G>A rs7096646 0.34395
NM_017433.5(MYO3A):c.4293+83G>A rs3758448 0.32268
NM_017433.5(MYO3A):c.3112-105C>T rs1342320 0.32266
NM_017433.5(MYO3A):c.3597G>A (p.Glu1199=) rs3740232 0.31670
NM_017433.5(MYO3A):c.732-127G>A rs1339814 0.30763
NM_017433.5(MYO3A):c.1359+236T>G rs12770421 0.30714
NM_017433.5(MYO3A):c.508+180G>A rs7911700 0.30099
NM_017433.5(MYO3A):c.169-93A>C rs12247318 0.29666
NM_017433.5(MYO3A):c.169-200G>T rs12252546 0.29604
NM_017433.5(MYO3A):c.4731-114A>G rs10508715 0.18591
NM_017433.5(MYO3A):c.2716-50A>C rs3818957 0.18180
NM_017433.5(MYO3A):c.3398+245C>T rs3737316 0.17850
NM_017433.5(MYO3A):c.732-299T>A rs17738768 0.17135
NM_017433.5(MYO3A):c.953+263G>A rs11816333 0.16755
NM_017433.5(MYO3A):c.303+159G>T rs1546699 0.16265
NM_017433.5(MYO3A):c.3274+258A>C rs1361713 0.14039
NM_017433.5(MYO3A):c.798-209A>T rs11014917 0.13824
NM_017433.5(MYO3A):c.1903+105C>A rs2275727 0.13768
NM_017433.5(MYO3A):c.1904-221A>T rs3817416 0.13733
NM_017433.5(MYO3A):c.4293+114G>A rs11812370 0.12956
NM_017433.5(MYO3A):c.3112-4T>C rs16926628 0.12937
NM_017433.5(MYO3A):c.4294-204G>A rs7894269 0.12925
NM_017433.5(MYO3A):c.3399-35G>A rs11014983 0.12279
NM_017433.5(MYO3A):c.954-225A>G rs3824706 0.11954
NM_017433.5(MYO3A):c.1743G>A (p.Glu581=) rs41279908 0.10116
NM_017433.5(MYO3A):c.304-283T>C rs111430129 0.10096
NM_017433.5(MYO3A):c.304-132A>C rs41279906 0.10018
NM_017433.5(MYO3A):c.4438+18T>C rs17739680 0.10011
NM_017433.5(MYO3A):c.303+209A>G rs1546698 0.09756
NM_017433.5(MYO3A):c.480G>T (p.Thr160=) rs12257119 0.09365
NM_017433.5(MYO3A):c.-15T>A rs11014875 0.08552
NM_017433.5(MYO3A):c.624C>T (p.Asp208=) rs35010955 0.08016
NM_017433.5(MYO3A):c.3112-56A>G rs75423842 0.07600
NM_017433.5(MYO3A):c.4731-219dup rs146748264 0.07134
NM_017433.5(MYO3A):c.660C>T (p.Ala220=) rs34067308 0.06790
NM_017433.5(MYO3A):c.586-28A>G rs41314631 0.06787
NM_017433.5(MYO3A):c.731+20G>A rs56210104 0.06778
NM_017433.5(MYO3A):c.586-29C>T rs56077277 0.06743
NM_017433.5(MYO3A):c.586-223C>T rs41314633 0.06741
NM_017433.5(MYO3A):c.304-171A>G rs79417371 0.06521
NM_017433.5(MYO3A):c.3398+134C>G rs56296397 0.06268
NM_017433.5(MYO3A):c.4294-146A>G rs116302255 0.06266
NM_017433.5(MYO3A):c.1563-88A>G rs76771391 0.06210
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser) rs33947968 0.06209
NM_017433.5(MYO3A):c.4587-135C>A rs77828234 0.06185
NM_017433.5(MYO3A):c.798-264_798-243dup rs138554078 0.06166
NM_017433.5(MYO3A):c.-17-79C>T rs17450092 0.04564
NM_017433.5(MYO3A):c.2794-58C>T rs45472793 0.03912
NM_017433.5(MYO3A):c.2505+187C>T rs78706885 0.03274
NM_017433.5(MYO3A):c.731+79A>G rs11014915 0.02711
NM_017433.5(MYO3A):c.4848C>G (p.Ser1616=) rs56316209 0.02444
NM_017433.5(MYO3A):c.4439-262C>T rs116548782 0.02404
NM_017433.5(MYO3A):c.303+287T>A rs78666654 0.02396
NM_017433.5(MYO3A):c.*246C>T rs12261671 0.02237
NM_017433.5(MYO3A):c.4294-78G>A rs113977717 0.02137
NM_017433.5(MYO3A):c.3398+320T>G rs114869853 0.02132
NM_017433.5(MYO3A):c.4586+202C>T rs191567877 0.02067
NM_017433.5(MYO3A):c.4546-95G>A rs7069695 0.01944
NM_017433.5(MYO3A):c.1903+300A>G rs57004262 0.01829
NM_017433.5(MYO3A):c.4438+160G>T rs187277149 0.01703
NM_017433.5(MYO3A):c.2716-286A>T rs56343721 0.01542
NM_017433.5(MYO3A):c.409-248T>G rs78788833 0.01419
NM_017433.5(MYO3A):c.4335A>G (p.Lys1445=) rs34615182 0.01332
NM_017433.5(MYO3A):c.731+276T>C rs78319880 0.01314
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_017433.5(MYO3A):c.508+279G>A rs77372144 0.01219
NM_017433.5(MYO3A):c.508+283G>A rs79266743 0.01218
NM_017433.5(MYO3A):c.509-16T>C rs117238740 0.01031
NM_017433.5(MYO3A):c.2999+265G>A rs76099570 0.00997
NM_017433.5(MYO3A):c.4439-254G>A rs185917848 0.00995
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833 0.00965
NM_017433.5(MYO3A):c.2716-117G>C rs11014972 0.00963
NM_017433.5(MYO3A):c.2114+78A>C rs12256860 0.00960
NM_017433.5(MYO3A):c.4587-30G>T rs115252307 0.00925
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr) rs35575696 0.00819
NM_017433.5(MYO3A):c.4730+92C>A rs147918803 0.00792
NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile) rs34151474 0.00780
NM_017433.5(MYO3A):c.304-287C>T rs59118546 0.00752
NM_017433.5(MYO3A):c.2417-53T>C rs111849833 0.00646
NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=) rs61731629 0.00612
NM_017433.5(MYO3A):c.2636-276T>A rs146477907 0.00610
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_017433.5(MYO3A):c.*270A>G rs115859827 0.00498
NM_017433.5(MYO3A):c.2635+55A>G rs74372343 0.00490
NM_017433.5(MYO3A):c.2999+222G>A rs116034089 0.00490
NM_017433.5(MYO3A):c.1971T>C (p.Thr657=) rs112195128 0.00489
NM_017433.5(MYO3A):c.2169T>C (p.Asn723=) rs114982270 0.00462
NM_017433.5(MYO3A):c.732-281C>T rs150463218 0.00457
NM_017433.5(MYO3A):c.409-242T>C rs114693840 0.00454
NM_017433.5(MYO3A):c.3399-102T>C rs148793254 0.00443
NM_017433.5(MYO3A):c.953+233G>A rs139635391 0.00418
NM_017433.5(MYO3A):c.3589G>A (p.Glu1197Lys) rs75801377 0.00414
NM_017433.5(MYO3A):c.1777-14G>T rs4592324 0.00409
NM_017433.5(MYO3A):c.4294-42T>C rs16926632 0.00402
NM_017433.5(MYO3A):c.3000-311G>A rs76385388 0.00385
NM_017433.5(MYO3A):c.4730+58C>G rs146767712 0.00373
NM_017433.5(MYO3A):c.2416+98A>G rs116256511 0.00351
NM_017433.5(MYO3A):c.586-258C>T rs147399440 0.00334
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro) rs61731652 0.00334
NM_017433.5(MYO3A):c.2999+224C>A rs116319748 0.00301
NM_017433.5(MYO3A):c.508+237G>A rs7911847 0.00291
NM_017433.5(MYO3A):c.4731-39T>G rs139127431 0.00245
NM_017433.5(MYO3A):c.4546-30A>G rs368674587 0.00228
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val) rs72787346 0.00218
NM_017433.5(MYO3A):c.3111+46G>T rs142382495 0.00156
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=) rs77562287 0.00150
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285 0.00134
NM_017433.5(MYO3A):c.4439-12C>T rs201689300 0.00126
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr) rs140301218 0.00121
NM_017433.5(MYO3A):c.1566A>C (p.Gly522=) rs139121564 0.00111
NM_017433.5(MYO3A):c.585+4A>T rs202189844 0.00095
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
NM_017433.5(MYO3A):c.177C>T (p.Asp59=) rs139958275 0.00085
NM_017433.5(MYO3A):c.2214T>C (p.Asn738=) rs34803755 0.00084
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=) rs3758442 0.00083
NM_017433.5(MYO3A):c.2133G>A (p.Leu711=) rs56147819 0.00078
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_017433.5(MYO3A):c.546G>T (p.Arg182=) rs148349532 0.00072
NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=) rs146832858 0.00069
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310 0.00044
NM_017433.5(MYO3A):c.113T>C (p.Val38Ala) rs144518447 0.00041
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val) rs56261037 0.00041
NM_017433.5(MYO3A):c.3584T>C (p.Val1195Ala) rs35675577 0.00039
NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala) rs138955440 0.00037
NM_017433.5(MYO3A):c.4294-31G>C rs377363591 0.00037
NM_017433.5(MYO3A):c.3000-11T>C rs375346333 0.00036
NM_017433.5(MYO3A):c.1248A>G (p.Gln416=) rs143749728 0.00035
NM_017433.5(MYO3A):c.1174T>C (p.Ser392Pro) rs201323717 0.00034
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser) rs146693681 0.00033
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr) rs201033926 0.00030
NM_017433.5(MYO3A):c.426T>G (p.His142Gln) rs189595832 0.00029
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr) rs142823078 0.00026
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro) rs149521185 0.00026
NM_017433.5(MYO3A):c.1052A>C (p.Glu351Ala) rs141612979 0.00024
NM_017433.5(MYO3A):c.1941A>G (p.Gln647=) rs778345128 0.00023
NM_017433.5(MYO3A):c.797+33A>G rs77216793 0.00023
NM_017433.5(MYO3A):c.4840C>T (p.Gln1614Ter) rs146106052 0.00022
NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn) rs144008984 0.00021
NM_017433.5(MYO3A):c.4627G>A (p.Glu1543Lys) rs148069836 0.00021
NM_017433.5(MYO3A):c.3112G>T (p.Val1038Leu) rs137900700 0.00020
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln) rs141903506 0.00020
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_017433.5(MYO3A):c.1796G>T (p.Ser599Ile) rs142289318 0.00019
NM_017433.5(MYO3A):c.1499C>T (p.Ala500Val) rs138526349 0.00018
NM_017433.5(MYO3A):c.1668A>G (p.Leu556=) rs112809849 0.00018
NM_017433.5(MYO3A):c.2506-1G>A rs201023600 0.00018
NM_017433.5(MYO3A):c.954-3del rs759978541 0.00017
NM_017433.5(MYO3A):c.1170+5G>A rs370017770 0.00016
NM_017433.5(MYO3A):c.1829T>C (p.Ile610Thr) rs140587339 0.00016
NM_017433.5(MYO3A):c.3398+3A>G rs373758358 0.00015
NM_017433.5(MYO3A):c.906G>A (p.Thr302=) rs139818474 0.00014
NM_017433.5(MYO3A):c.1828A>G (p.Ile610Val) rs151254539 0.00013
NM_017433.5(MYO3A):c.3959A>G (p.Glu1320Gly) rs138034435 0.00013
NM_017433.5(MYO3A):c.1360-8C>A rs201980317 0.00011
NM_017433.5(MYO3A):c.1525T>C (p.Tyr509His) rs150793986 0.00011
NM_017433.5(MYO3A):c.2353G>T (p.Gly785Cys) rs202001447 0.00010
NM_017433.5(MYO3A):c.202A>C (p.Ile68Leu) rs569392916 0.00009
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_017433.5(MYO3A):c.4530C>T (p.Tyr1510=) rs139504940 0.00009
NM_017433.5(MYO3A):c.4657G>C (p.Glu1553Gln) rs746991326 0.00009
NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn) rs3737274 0.00009
NM_017433.5(MYO3A):c.4242G>A (p.Ser1414=) rs370029963 0.00008
NM_017433.5(MYO3A):c.3027C>T (p.Ser1009=) rs141341808 0.00007
NM_017433.5(MYO3A):c.1662-9T>A rs200678745 0.00006
NM_017433.5(MYO3A):c.4618T>G (p.Tyr1540Asp) rs567422421 0.00006
NM_017433.5(MYO3A):c.1193C>A (p.Ser398Ter) rs769540160 0.00004
NM_017433.5(MYO3A):c.1860G>C (p.Gln620His) rs556349593 0.00004
NM_017433.5(MYO3A):c.2376A>G (p.Glu792=) rs758480848 0.00004
NM_017433.5(MYO3A):c.2423T>C (p.Phe808Ser) rs187273590 0.00004
NM_017433.5(MYO3A):c.4094A>C (p.Gln1365Pro) rs528252728 0.00004
NM_017433.5(MYO3A):c.743C>G (p.Pro248Arg) rs780657075 0.00004
NM_017433.5(MYO3A):c.991C>T (p.Arg331Ter) rs749269594 0.00004
NM_017433.5(MYO3A):c.2245G>A (p.Val749Met) rs537846606 0.00003
NM_017433.5(MYO3A):c.2703C>A (p.Ile901=) rs201429267 0.00003
NM_017433.5(MYO3A):c.2999G>A (p.Arg1000Gln) rs755548787 0.00003
NM_017433.5(MYO3A):c.3398+25C>T rs201812562 0.00003
NM_017433.5(MYO3A):c.4505T>G (p.Leu1502Ter) rs754217606 0.00003
NM_017433.5(MYO3A):c.2023A>G (p.Arg675Gly) rs776878976 0.00002
NM_017433.5(MYO3A):c.2702T>A (p.Ile901Asn) rs201572198 0.00002
NM_017433.5(MYO3A):c.2783C>G (p.Ser928Ter) rs778110879 0.00002
NM_017433.5(MYO3A):c.2951G>A (p.Arg984Gln) rs767330393 0.00002
NM_017433.5(MYO3A):c.3973C>T (p.Arg1325Cys) rs767960720 0.00002
NM_017433.5(MYO3A):c.1416C>A (p.Ala472=) rs779845994 0.00001
NM_017433.5(MYO3A):c.1975G>A (p.Gly659Arg) rs201181958 0.00001
NM_017433.5(MYO3A):c.2167A>C (p.Asn723His) rs375759440 0.00001
NM_017433.5(MYO3A):c.2548A>C (p.Thr850Pro) rs200248007 0.00001
NM_017433.5(MYO3A):c.2685G>T (p.Arg895Ser) rs1398698112 0.00001
NM_017433.5(MYO3A):c.2701A>G (p.Ile901Val) rs1371951424 0.00001
NM_017433.5(MYO3A):c.2794-11G>A rs752888743 0.00001
NM_017433.5(MYO3A):c.2845G>T (p.Val949Phe) rs483352742 0.00001
NM_017433.5(MYO3A):c.3274+1G>T rs201538580 0.00001
NM_017433.5(MYO3A):c.3275-2A>G rs377694329 0.00001
NM_017433.5(MYO3A):c.35A>T (p.Asp12Val) rs751347652 0.00001
NM_017433.5(MYO3A):c.4072C>T (p.Arg1358Trp) rs775816097 0.00001
NM_017433.5(MYO3A):c.4081A>G (p.Lys1361Glu) rs1380105932 0.00001
NM_017433.5(MYO3A):c.4132A>G (p.Arg1378Gly) rs769527236 0.00001
NM_017433.5(MYO3A):c.4294A>G (p.Ile1432Val) rs1842352805 0.00001
NM_017433.5(MYO3A):c.4474C>A (p.Pro1492Thr) rs368473860 0.00001
NM_017433.5(MYO3A):c.4829G>A (p.Arg1610Gln) rs375545757 0.00001
NM_017433.5(MYO3A):c.83G>A (p.Gly28Asp) rs771163629 0.00001
NM_017433.5(MYO3A):c.859A>C (p.Ile287Leu) rs886046919 0.00001
NM_017433.5(MYO3A):c.946A>G (p.Lys316Glu) rs768515710 0.00001
NM_017433.5(MYO3A):c.103G>A (p.Val35Ile)
NM_017433.5(MYO3A):c.1072C>T (p.Leu358Phe) rs2131379855
NM_017433.5(MYO3A):c.1104_1105delinsTA (p.Val369Ile) rs386742102
NM_017433.5(MYO3A):c.112G>T (p.Val38Leu)
NM_017433.5(MYO3A):c.1143T>C (p.Phe381=) rs926365190
NM_017433.5(MYO3A):c.1162T>C (p.Ser388Pro) rs917537176
NM_017433.5(MYO3A):c.1171-10T>C rs2131387204
NM_017433.5(MYO3A):c.1262A>T (p.Tyr421Phe) rs2131387885
NM_017433.5(MYO3A):c.1275+36T>G rs3758441
NM_017433.5(MYO3A):c.1276-45dup rs3834403
NM_017433.5(MYO3A):c.1279A>G (p.Ile427Val) rs745680182
NM_017433.5(MYO3A):c.1324C>A (p.His442Asn) rs142415484
NM_017433.5(MYO3A):c.1448A>G (p.Asn483Ser)
NM_017433.5(MYO3A):c.1450T>C (p.Ser484Pro)
NM_017433.5(MYO3A):c.1580A>G (p.His527Arg) rs769196672
NM_017433.5(MYO3A):c.1621A>G (p.Lys541Glu)
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.168+1G>A
NM_017433.5(MYO3A):c.168+1G>T
NM_017433.5(MYO3A):c.1940A>G (p.Gln647Arg) rs1302697771
NM_017433.5(MYO3A):c.2088_2094delinsCAA (p.Leu697fs) rs1554829642
NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp) rs1564573788
NM_017433.5(MYO3A):c.2149G>A (p.Asp717Asn)
NM_017433.5(MYO3A):c.2180A>G (p.Asn727Ser)
NM_017433.5(MYO3A):c.2180dup (p.Asn727fs) rs769462859
NM_017433.5(MYO3A):c.219T>G (p.Ser73=)
NM_017433.5(MYO3A):c.2242C>T (p.His748Tyr)
NM_017433.5(MYO3A):c.225C>A (p.His75Gln)
NM_017433.5(MYO3A):c.2413G>T (p.Val805Leu) rs2131846771
NM_017433.5(MYO3A):c.2417-13T>C
NM_017433.5(MYO3A):c.2417-248del rs10715590
NM_017433.5(MYO3A):c.2417-248dup rs10715590
NM_017433.5(MYO3A):c.2417-254_2417-248del rs10715590
NM_017433.5(MYO3A):c.2417-3C>T rs2131857289
NM_017433.5(MYO3A):c.2440T>C (p.Ser814Pro) rs2131857474
NM_017433.5(MYO3A):c.2506-166_2506-146del rs11273792
NM_017433.5(MYO3A):c.2506-60GAG[3] rs35241240
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=) rs371741845
NM_017433.5(MYO3A):c.2635+63G>T rs77096061
NM_017433.5(MYO3A):c.2715+204T>G rs115929922
NM_017433.5(MYO3A):c.2737C>T (p.Arg913Cys)
NM_017433.5(MYO3A):c.2848C>G (p.Arg950Gly) rs78316055
NM_017433.5(MYO3A):c.2872C>A (p.Arg958Ser)
NM_017433.5(MYO3A):c.303+152T>A rs1546700
NM_017433.5(MYO3A):c.303+3_303+6del
NM_017433.5(MYO3A):c.304-319G>A rs113396120
NM_017433.5(MYO3A):c.3111+129_3111+140del rs67163154
NM_017433.5(MYO3A):c.3112-197G>A rs117740226
NM_017433.5(MYO3A):c.3174G>A (p.Lys1058=) rs1172704227
NM_017433.5(MYO3A):c.3334G>A (p.Ala1112Thr)
NM_017433.5(MYO3A):c.3436T>C (p.Ser1146Pro) rs1842167510
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=) rs372169216
NM_017433.5(MYO3A):c.409-21TA[2] rs112520797
NM_017433.5(MYO3A):c.409-9_409-5del rs770277459
NM_017433.5(MYO3A):c.4123A>G (p.Lys1375Glu) rs1227000239
NM_017433.5(MYO3A):c.4293+101C>G rs3758447
NM_017433.5(MYO3A):c.4358A>G (p.Gln1453Arg) rs1164727921
NM_017433.5(MYO3A):c.4360C>T (p.Gln1454Ter)
NM_017433.5(MYO3A):c.4415T>A (p.Val1472Asp)
NM_017433.5(MYO3A):c.4438+243del rs144249914
NM_017433.5(MYO3A):c.4438+275T>G rs6415977
NM_017433.5(MYO3A):c.4484G>A (p.Arg1495Gln)
NM_017433.5(MYO3A):c.4508_4511del (p.Asn1503fs) rs757660866
NM_017433.5(MYO3A):c.4546-168C>T rs144641808
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688
NM_017433.5(MYO3A):c.457G>A (p.Gly153Ser) rs773233985
NM_017433.5(MYO3A):c.4586+231dup rs71401880
NM_017433.5(MYO3A):c.4608G>T (p.Leu1536Phe) rs753362191
NM_017433.5(MYO3A):c.4643G>A (p.Arg1548His) rs142609832
NM_017433.5(MYO3A):c.4731-198C>T rs115874369
NM_017433.5(MYO3A):c.4791C>G (p.Tyr1597Ter) rs779121070
NM_017433.5(MYO3A):c.508+236C>T rs116294059
NM_017433.5(MYO3A):c.508+36A>T rs75002566
NM_017433.5(MYO3A):c.531T>G (p.Ser177Arg) rs1346197951
NM_017433.5(MYO3A):c.555del (p.Ser185_Val186insTer) rs773432148
NM_017433.5(MYO3A):c.585+3C>T rs200381660
NM_017433.5(MYO3A):c.615C>A (p.Thr205=) rs55634590
NM_017433.5(MYO3A):c.625G>A (p.Ala209Thr) rs777926817
NM_017433.5(MYO3A):c.680A>G (p.Asp227Gly) rs1842309816
NM_017433.5(MYO3A):c.731+4_731+5insTA rs727505119
NM_017433.5(MYO3A):c.732-2A>C
NM_017433.5(MYO3A):c.76_77delinsTA (p.Thr26Ter)
NM_017433.5(MYO3A):c.790A>G (p.Ile264Val) rs773997906

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