ClinVar Miner

List of variants in gene MYO6 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.1722C>T (p.Asp574=) rs11756446 0.04242
NM_004999.4(MYO6):c.3303C>T (p.Cys1101=) rs9443199 0.02151
NM_004999.4(MYO6):c.2867+143G>A rs148855110 0.01988
NM_004999.4(MYO6):c.-49C>G rs149130280 0.01849
NM_004999.4(MYO6):c.*1962A>G rs80199115 0.01750
NM_004999.4(MYO6):c.*3546A>G rs73751758 0.01688
NM_004999.4(MYO6):c.2658+133A>G rs111493322 0.01485
NM_004999.4(MYO6):c.2867+245A>G rs113678101 0.01392
NM_004999.4(MYO6):c.*1469G>T rs74367845 0.01285
NM_004999.4(MYO6):c.391+158A>G rs74419297 0.01279
NM_004999.4(MYO6):c.*2547G>A rs148652044 0.01269
NM_004999.4(MYO6):c.1381+197A>G rs3798438 0.01251
NM_004999.4(MYO6):c.1176A>G (p.Thr392=) rs2273857 0.01200
NM_004999.4(MYO6):c.1675-261G>A rs58184532 0.01130
NM_004999.4(MYO6):c.*3632T>G rs9443200 0.01093
NM_004999.4(MYO6):c.2078-313G>A rs139222118 0.01056
NM_004999.4(MYO6):c.554-79A>C rs114592293 0.00976
NM_004999.4(MYO6):c.-47-157C>T rs116700689 0.00928
NM_004999.4(MYO6):c.1675-268C>T rs575593385 0.00907
NM_004999.4(MYO6):c.-47-175G>A rs1280046 0.00842
NM_004999.4(MYO6):c.*4464C>T rs79815348 0.00798
NM_004999.4(MYO6):c.*3509G>A rs78129547 0.00783
NM_004999.4(MYO6):c.*2910T>A rs140495245 0.00749
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_004999.4(MYO6):c.-225G>C rs886061759 0.00715
NM_004999.4(MYO6):c.2658+84G>A rs116151844 0.00690
NM_004999.4(MYO6):c.2658+258C>T rs115015775 0.00686
NM_004999.4(MYO6):c.2077+169T>C rs113821839 0.00635
NM_004999.4(MYO6):c.*3288T>C rs118121148 0.00533
NM_004999.4(MYO6):c.816+257A>G rs189737317 0.00498
NM_004999.4(MYO6):c.1381+167_1381+171del rs560466966 0.00497
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_004999.4(MYO6):c.1473+67T>C rs113300962 0.00448
NM_004999.4(MYO6):c.1674+13A>G rs6925845 0.00447
NM_004999.4(MYO6):c.261+129G>C rs113576831 0.00445
NM_004999.4(MYO6):c.3177-294A>G rs113462945 0.00438
NM_004999.4(MYO6):c.*1006A>G rs113791186 0.00430
NM_004999.4(MYO6):c.2659-47A>G rs113353486 0.00424
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_004999.4(MYO6):c.*2396A>G rs147620639 0.00423
NM_004999.4(MYO6):c.3439+282A>G rs76147147 0.00384
NM_004999.4(MYO6):c.1675-187T>G rs191349476 0.00381
NM_004999.4(MYO6):c.2867+37A>G rs59244460 0.00380
NM_004999.4(MYO6):c.*1607C>T rs77813459 0.00356
NM_004999.4(MYO6):c.897+238C>T rs3756903 0.00355
NM_004999.4(MYO6):c.652-216G>T rs111480295 0.00351
NM_004999.4(MYO6):c.*4481T>C rs142744723 0.00350
NM_004999.4(MYO6):c.1674+266G>A rs6453844 0.00329
NM_004999.4(MYO6):c.2417-2064T>C rs530086641 0.00328
NM_004999.4(MYO6):c.2416+235A>G rs529749344 0.00326
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_004999.4(MYO6):c.1224-316A>G rs111545804 0.00317
NM_004999.4(MYO6):c.554-261G>T rs111376920 0.00311
NM_004999.4(MYO6):c.554-191C>T rs111567888 0.00310
NM_004999.4(MYO6):c.652-223G>A rs112510570 0.00310
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_004999.4(MYO6):c.*4095G>A rs185154265 0.00151
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
NM_004999.4(MYO6):c.*303A>G rs146133231 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
NM_004999.4(MYO6):c.3137+45T>A rs199995052 0.00111
NM_004999.4(MYO6):c.2078-19T>C rs188730005 0.00105
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_004999.4(MYO6):c.2659-26G>A rs370128958 0.00098
NM_004999.4(MYO6):c.1944+31A>G rs199620053 0.00096
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr) rs148735953 0.00093
NM_004999.4(MYO6):c.2175A>G (p.Lys725=) rs116571790 0.00088
NM_004999.4(MYO6):c.3107+29G>A rs201488990 0.00081
NM_004999.4(MYO6):c.2416+51T>C rs371098321 0.00074
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) rs146419641 0.00069
NM_004999.4(MYO6):c.875T>C (p.Leu292Ser) rs144038082 0.00056
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_004999.4(MYO6):c.1546+6T>C rs199999513 0.00052
NM_004999.4(MYO6):c.*1232C>T rs182487428 0.00051
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_004999.4(MYO6):c.*3230T>C rs562815854 0.00038
NM_004999.4(MYO6):c.18C>T (p.Pro6=) rs138024490 0.00035
NM_004999.4(MYO6):c.*3874G>A rs187631847 0.00032
NM_004999.4(MYO6):c.*4288G>A rs570588843 0.00029
NM_004999.4(MYO6):c.*1738A>G rs193019967 0.00028
NM_004999.4(MYO6):c.898-51T>A rs189536718 0.00028
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_004999.4(MYO6):c.1770+21G>T rs368430877 0.00025
NM_004999.4(MYO6):c.*4428A>G rs574549669 0.00024
NM_004999.4(MYO6):c.3483G>A (p.Glu1161=) rs139174622 0.00024
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_004999.4(MYO6):c.*1889A>G rs189155544 0.00018
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_004999.4(MYO6):c.262-12T>G rs368072756 0.00017
NM_004999.4(MYO6):c.1224-15A>G rs376927352 0.00016
NM_004999.4(MYO6):c.1674+40G>A rs202233043 0.00016
NM_004999.4(MYO6):c.2665A>G (p.Met889Val) rs727505098 0.00014
NM_004999.4(MYO6):c.553+13T>A rs369806112 0.00013
NM_004999.4(MYO6):c.441C>T (p.Ile147=) rs565770950 0.00012
NM_004999.4(MYO6):c.3393A>G (p.Pro1131=) rs768505655 0.00011
NM_004999.4(MYO6):c.600C>T (p.Asn200=) rs145665265 0.00011
NM_004999.4(MYO6):c.1767A>G (p.Glu589=) rs547890149 0.00008
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile) rs373519764 0.00006
NM_004999.4(MYO6):c.2672C>T (p.Thr891Met) rs146682372 0.00006
NM_004999.4(MYO6):c.3138-13G>A rs745986505 0.00006
NM_004999.4(MYO6):c.3537C>T (p.Ala1179=) rs371212410 0.00006
NM_004999.4(MYO6):c.553+10A>G rs188959117 0.00005
NM_004999.4(MYO6):c.966G>A (p.Thr322=) rs375754710 0.00005
NM_004999.4(MYO6):c.1926C>T (p.Ser642=) rs184784079 0.00004
NM_004999.4(MYO6):c.2947-39T>G rs527787322 0.00004
NM_004999.4(MYO6):c.3107+11C>T rs201968938 0.00004
NM_004999.4(MYO6):c.45A>G (p.Gly15=) rs758200740 0.00004
NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser) rs749985011 0.00003
NM_004999.4(MYO6):c.1224-31G>T rs768918981 0.00002
NM_004999.4(MYO6):c.189T>G (p.Cys63Trp) rs768643110 0.00002
NM_004999.4(MYO6):c.1945-16T>C rs373824667 0.00002
NM_004999.4(MYO6):c.270C>T (p.Val90=) rs376613843 0.00002
NM_004999.4(MYO6):c.27G>A (p.Ala9=) rs767670766 0.00002
NM_004999.4(MYO6):c.297A>G (p.Pro99=) rs375790985 0.00002
NM_004999.4(MYO6):c.3659-10A>G rs765929647 0.00002
NM_004999.4(MYO6):c.1212A>G (p.Gly404=) rs397517044 0.00001
NM_004999.4(MYO6):c.2286+8T>C rs780274416 0.00001
NM_004999.4(MYO6):c.2337G>A (p.Glu779=) rs762207024 0.00001
NM_004999.4(MYO6):c.2658+8A>G rs397517048 0.00001
NM_004999.4(MYO6):c.3384A>G (p.Gln1128=) rs397517051 0.00001
NM_004999.4(MYO6):c.465C>T (p.Ala155=) rs200963569 0.00001
NM_004999.4(MYO6):c.498-11A>G rs749261743 0.00001
NM_004999.4(MYO6):c.564C>T (p.Leu188=) rs750374337 0.00001
NM_004999.4(MYO6):c.887A>G (p.Lys296Arg) rs1402918571 0.00001
NM_004999.4(MYO6):c.*1139del rs3834289
NM_004999.4(MYO6):c.*1528C>T rs188719640
NM_004999.4(MYO6):c.*186A>G rs571307356
NM_004999.4(MYO6):c.*3039A>G rs540365866
NM_004999.4(MYO6):c.*3301del rs199966180
NM_004999.4(MYO6):c.*4113dup rs138193115
NM_004999.4(MYO6):c.*4283A>T rs7746476
NM_004999.4(MYO6):c.*4423AATT[1] rs10547766
NM_004999.4(MYO6):c.*4495AAAT[4] rs574841371
NM_004999.4(MYO6):c.*875C>T rs184099248
NM_004999.4(MYO6):c.-47-183_-47-179dup rs759910571
NM_004999.4(MYO6):c.-47-197C>A rs890890661
NM_004999.4(MYO6):c.1078+12A>G
NM_004999.4(MYO6):c.1078+19dup rs144408691
NM_004999.4(MYO6):c.1095G>A (p.Lys365=)
NM_004999.4(MYO6):c.1128T>C (p.Ala376=) rs1583282758
NM_004999.4(MYO6):c.117+11C>T
NM_004999.4(MYO6):c.1223+16A>T rs974546034
NM_004999.4(MYO6):c.1473+10A>G rs876657531
NM_004999.4(MYO6):c.1474-12T>C
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_004999.4(MYO6):c.1675-18A>G
NM_004999.4(MYO6):c.1675-239_1675-238insGGTG rs377636351
NM_004999.4(MYO6):c.1675-250TG[15] rs10687890
NM_004999.4(MYO6):c.1675-250TG[21] rs10687890
NM_004999.4(MYO6):c.1695G>C (p.Leu565=) rs111033501
NM_004999.4(MYO6):c.1749G>A (p.Ala583=)
NM_004999.4(MYO6):c.1749G>T (p.Ala583=)
NM_004999.4(MYO6):c.1866A>G (p.Glu622=)
NM_004999.4(MYO6):c.188-19T>G
NM_004999.4(MYO6):c.1944+18T>G
NM_004999.4(MYO6):c.1944+7G>A
NM_004999.4(MYO6):c.1944+7G>T rs1265157032
NM_004999.4(MYO6):c.1984-5C>T
NM_004999.4(MYO6):c.1992C>T (p.Ser664=)
NM_004999.4(MYO6):c.2078-20G>T
NM_004999.4(MYO6):c.2170G>C (p.Asp724His) rs397517046
NM_004999.4(MYO6):c.222C>G (p.Leu74=)
NM_004999.4(MYO6):c.222C>T (p.Leu74=) rs1395892527
NM_004999.4(MYO6):c.2287-9A>G
NM_004999.4(MYO6):c.2417-7C>T
NM_004999.4(MYO6):c.2507+12A>G rs1214613190
NM_004999.4(MYO6):c.2507+19A>G
NM_004999.4(MYO6):c.2508-19T>C
NM_004999.4(MYO6):c.264A>G (p.Thr88=)
NM_004999.4(MYO6):c.2733T>C (p.Ser911=) rs1554218577
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_004999.4(MYO6):c.2946+16G>T
NM_004999.4(MYO6):c.2946+8C>T
NM_004999.4(MYO6):c.2947-4T>C
NM_004999.4(MYO6):c.2972G>A (p.Arg991Gln) rs529167250
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu) rs529167250
NM_004999.4(MYO6):c.3099G>T (p.Ala1033=)
NM_004999.4(MYO6):c.3103C>A (p.Arg1035=) rs551471138
NM_004999.4(MYO6):c.3107+19G>A rs538399704
NM_004999.4(MYO6):c.3107+19G>T
NM_004999.4(MYO6):c.3107+279_3107+282del rs549109013
NM_004999.4(MYO6):c.3137+274dup rs372759632
NM_004999.4(MYO6):c.3138-4G>A
NM_004999.4(MYO6):c.3176+14A>C
NM_004999.4(MYO6):c.3177-138A>G rs111606661
NM_004999.4(MYO6):c.3177-15G>A
NM_004999.4(MYO6):c.3207T>C (p.Ala1069=) rs727505051
NM_004999.4(MYO6):c.3270T>C (p.Asn1090=) rs139395133
NM_004999.4(MYO6):c.3280+87TG[12] rs71002774
NM_004999.4(MYO6):c.3281-18G>A
NM_004999.4(MYO6):c.3281-18G>T rs75371739
NM_004999.4(MYO6):c.3288G>A (p.Glu1096=)
NM_004999.4(MYO6):c.3321G>A (p.Arg1107=)
NM_004999.4(MYO6):c.3412+8G>C
NM_004999.4(MYO6):c.3413-20C>T
NM_004999.4(MYO6):c.3439+14T>G
NM_004999.4(MYO6):c.3531C>T (p.Arg1177=)
NM_004999.4(MYO6):c.3659-5T>C
NM_004999.4(MYO6):c.3723T>C (p.Gly1241=)
NM_004999.4(MYO6):c.3762A>G (p.Glu1254=)
NM_004999.4(MYO6):c.3822C>A (p.Thr1274=)
NM_004999.4(MYO6):c.3840G>A (p.Leu1280=) rs1257266201
NM_004999.4(MYO6):c.522A>G (p.Thr174=)
NM_004999.4(MYO6):c.553+17A>G
NM_004999.4(MYO6):c.554-42C>G rs113249518
NM_004999.4(MYO6):c.652-9G>T
NM_004999.4(MYO6):c.816+157del rs770670898
NM_004999.4(MYO6):c.897+177_897+179del
NM_004999.4(MYO6):c.897+19C>G
NM_004999.4(MYO6):c.933A>G (p.Leu311=)
NM_004999.4(MYO6):c.951T>C (p.Phe317=) rs397517055

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