ClinVar Miner

List of variants in gene MYO6 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.2658+17C>T rs2295936 0.22603
NM_004999.4(MYO6):c.553+11T>C rs12210963 0.13246
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.2658+20A>C rs2295937 0.01861
NM_004999.4(MYO6):c.1176A>G (p.Thr392=) rs2273857 0.01200
NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323 0.00784
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_004999.4(MYO6):c.3333G>A (p.Val1111=) rs114970874 0.00506
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.3246T>C (p.Tyr1082=) rs138437852 0.00470
NM_004999.4(MYO6):c.1674+13A>G rs6925845 0.00447
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg) rs61734891 0.00266
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.2517T>C (p.Gly839=) rs112597191 0.00135
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
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.2078-19T>C rs188730005 0.00105
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
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.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.1182C>A (p.Val394=) rs145568584 0.00040
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_004999.4(MYO6):c.18C>T (p.Pro6=) rs138024490 0.00035
NM_004999.4(MYO6):c.52A>G (p.Met18Val) rs142516093 0.00030
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_004999.4(MYO6):c.3483G>A (p.Glu1161=) rs139174622 0.00024
NM_004999.4(MYO6):c.262-9C>T rs187811833 0.00021
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
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.271G>A (p.Ala91Thr) rs573770611 0.00013
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.600C>T (p.Asn200=) rs145665265 0.00011
NM_004999.4(MYO6):c.3439C>T (p.Pro1147Ser) rs748774373 0.00007
NM_004999.4(MYO6):c.3791A>G (p.Asn1264Ser) rs367978681 0.00007
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile) rs373519764 0.00006
NM_004999.4(MYO6):c.1589A>T (p.Asp530Val) rs373929865 0.00006
NM_004999.4(MYO6):c.2342T>A (p.Val781Asp) rs750880162 0.00006
NM_004999.4(MYO6):c.2672C>T (p.Thr891Met) rs146682372 0.00006
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys) rs200205409 0.00006
NM_004999.4(MYO6):c.3269A>G (p.Asn1090Ser) rs368097606 0.00006
NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp) rs189411232 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.3107+11C>T rs201968938 0.00004
NM_004999.4(MYO6):c.3439+1G>A rs146219669 0.00004
NM_004999.4(MYO6):c.596G>A (p.Arg199His) rs140235734 0.00004
NM_004999.4(MYO6):c.91A>G (p.Ile31Val) rs775035511 0.00004
NM_004999.4(MYO6):c.140A>G (p.Gln47Arg) rs576924704 0.00003
NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu) rs980820643 0.00003
NM_004999.4(MYO6):c.1939T>G (p.Phe647Val) rs752585373 0.00003
NM_004999.4(MYO6):c.2020A>G (p.Lys674Glu) rs374247860 0.00003
NM_004999.4(MYO6):c.3679T>C (p.Cys1227Arg) rs370061746 0.00003
NM_004999.4(MYO6):c.1945-16T>C rs373824667 0.00002
NM_004999.4(MYO6):c.217C>G (p.Leu73Val) rs759372006 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.3035T>C (p.Leu1012Pro) rs757332098 0.00002
NM_004999.4(MYO6):c.3659-10A>G rs765929647 0.00002
NM_004999.4(MYO6):c.3719G>A (p.Arg1240His) rs772457315 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter) rs766700803 0.00001
NM_004999.4(MYO6):c.1674+5G>A rs761306925 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.2508C>T (p.Arg836=) rs1194065369 0.00001
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) rs121912561 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_004999.4(MYO6):c.2974C>T (p.Gln992Ter) rs1778981404 0.00001
NM_004999.4(MYO6):c.3057T>G (p.Ser1019Arg) rs372968228 0.00001
NM_004999.4(MYO6):c.3137+5G>A rs397517050 0.00001
NM_004999.4(MYO6):c.3515G>A (p.Arg1172His) rs1554223761 0.00001
NM_004999.4(MYO6):c.3704G>T (p.Gly1235Val) rs199728355 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.647A>T (p.Glu216Val) rs121912559 0.00001
NM_004999.4(MYO6):c.685C>T (p.Leu229Phe) rs1301010120 0.00001
NC_000006.11:g.(?_76527265)_(76542684_?)dup
NC_000006.11:g.(?_76540113)_(76542684_?)dup
NM_004999.4(MYO6):c.1073C>T (p.Thr358Ile)
NM_004999.4(MYO6):c.1078+12A>G
NM_004999.4(MYO6):c.1078+19dup rs144408691
NM_004999.4(MYO6):c.1078+6C>T
NM_004999.4(MYO6):c.1079G>A (p.Gly360Asp)
NM_004999.4(MYO6):c.1095G>A (p.Lys365=)
NM_004999.4(MYO6):c.1115T>C (p.Leu372Ser)
NM_004999.4(MYO6):c.1125del (p.Cys375fs)
NM_004999.4(MYO6):c.1128T>C (p.Ala376=) rs1583282758
NM_004999.4(MYO6):c.1156C>T (p.Leu386Phe)
NM_004999.4(MYO6):c.1161A>G (p.Arg387=)
NM_004999.4(MYO6):c.117+11C>T
NM_004999.4(MYO6):c.1216G>C (p.Val406Leu)
NM_004999.4(MYO6):c.1223+16A>T rs974546034
NM_004999.4(MYO6):c.1283A>G (p.Tyr428Cys)
NM_004999.4(MYO6):c.1291C>T (p.Leu431Phe)
NM_004999.4(MYO6):c.1383_1385del (p.Glu461_Tyr462delinsAsp)
NM_004999.4(MYO6):c.1397A>T (p.Asn466Ile)
NM_004999.4(MYO6):c.1442A>C (p.Gln481Pro)
NM_004999.4(MYO6):c.1447T>A (p.Phe483Ile)
NM_004999.4(MYO6):c.1452_1453insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGTCTTCAACAATTTTTT (p.Asn485delinsPhePhePhePhePhePheXaaXaaXaaXaaGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluSerSerThrIlePheTer)
NM_004999.4(MYO6):c.1474-12T>C
NM_004999.4(MYO6):c.1516G>T (p.Val506Leu) rs1554211583
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_004999.4(MYO6):c.1627T>C (p.Phe543Leu)
NM_004999.4(MYO6):c.1675-18A>G
NM_004999.4(MYO6):c.1747G>A (p.Ala583Thr)
NM_004999.4(MYO6):c.1749G>A (p.Ala583=)
NM_004999.4(MYO6):c.1749G>T (p.Ala583=)
NM_004999.4(MYO6):c.1770+3G>A
NM_004999.4(MYO6):c.1785G>T (p.Glu595Asp)
NM_004999.4(MYO6):c.1852C>T (p.Arg618Trp)
NM_004999.4(MYO6):c.1866A>G (p.Glu622=)
NM_004999.4(MYO6):c.1867T>G (p.Ser623Ala)
NM_004999.4(MYO6):c.188-19T>G
NM_004999.4(MYO6):c.1885A>G (p.Lys629Glu)
NM_004999.4(MYO6):c.1944+18T>G
NM_004999.4(MYO6):c.1944+27dup rs754309380
NM_004999.4(MYO6):c.1944+7G>A
NM_004999.4(MYO6):c.1944+7G>T rs1265157032
NM_004999.4(MYO6):c.1983+1G>A rs2149321922
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.2078-2A>G rs1777874560
NM_004999.4(MYO6):c.2103G>A (p.Met701Ile) rs975737464
NM_004999.4(MYO6):c.2117dup (p.Ser707fs)
NM_004999.4(MYO6):c.2149A>G (p.Met717Val) rs2149343586
NM_004999.4(MYO6):c.2159A>T (p.Lys720Met)
NM_004999.4(MYO6):c.2164A>G (p.Met722Val) rs2149343655
NM_004999.4(MYO6):c.2183G>A (p.Arg728Lys)
NM_004999.4(MYO6):c.2209-2_2212del
NM_004999.4(MYO6):c.2218A>G (p.Lys740Glu) rs2149343921
NM_004999.4(MYO6):c.222C>G (p.Leu74=)
NM_004999.4(MYO6):c.222C>T (p.Leu74=) rs1395892527
NM_004999.4(MYO6):c.2240dup (p.Asn747fs)
NM_004999.4(MYO6):c.2253T>G (p.Phe751Leu)
NM_004999.4(MYO6):c.2274T>G (p.Phe758Leu)
NM_004999.4(MYO6):c.2287-9A>G
NM_004999.4(MYO6):c.2307C>G (p.Ile769Met)
NM_004999.4(MYO6):c.2366C>T (p.Thr789Ile)
NM_004999.4(MYO6):c.2374C>T (p.Arg792Cys)
NM_004999.4(MYO6):c.2410A>G (p.Ile804Val)
NM_004999.4(MYO6):c.2417-7C>T
NM_004999.4(MYO6):c.2430A>G (p.Ile810Met) rs1354902174
NM_004999.4(MYO6):c.2473C>T (p.Arg825Ter)
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.2544dup (p.Arg849fs)
NM_004999.4(MYO6):c.2560A>G (p.Asn854Asp) rs2149358961
NM_004999.4(MYO6):c.2566G>T (p.Val856Leu)
NM_004999.4(MYO6):c.256del (p.Ile86fs)
NM_004999.4(MYO6):c.2571_2574del (p.Ser858fs) rs2149359004
NM_004999.4(MYO6):c.264A>G (p.Thr88=)
NM_004999.4(MYO6):c.2692del (p.Glu898fs)
NM_004999.4(MYO6):c.2696A>G (p.Tyr899Cys)
NM_004999.4(MYO6):c.2726_2727delinsAA (p.Leu909Gln) rs2149367706
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_004999.4(MYO6):c.275A>G (p.Asn92Ser)
NM_004999.4(MYO6):c.2762A>G (p.Glu921Gly)
NM_004999.4(MYO6):c.2795A>G (p.Glu932Gly)
NM_004999.4(MYO6):c.2800G>T (p.Glu934Ter)
NM_004999.4(MYO6):c.2804A>G (p.Lys935Arg)
NM_004999.4(MYO6):c.2810G>T (p.Arg937Ile)
NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs) rs876657709
NM_004999.4(MYO6):c.2857G>A (p.Glu953Lys)
NM_004999.4(MYO6):c.2872C>G (p.Leu958Val)
NM_004999.4(MYO6):c.2881G>A (p.Glu961Lys)
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_004999.4(MYO6):c.2906A>G (p.Glu969Gly)
NM_004999.4(MYO6):c.2937A>C (p.Lys979Asn)
NM_004999.4(MYO6):c.2938C>T (p.Arg980Cys)
NM_004999.4(MYO6):c.2939G>A (p.Arg980His)
NM_004999.4(MYO6):c.2946+16G>T
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu) rs529167250
NM_004999.4(MYO6):c.3005T>A (p.Val1002Asp)
NM_004999.4(MYO6):c.3017A>T (p.Glu1006Val) rs1321745586
NM_004999.4(MYO6):c.3040dup (p.Leu1014fs)
NM_004999.4(MYO6):c.3076G>C (p.Asp1026His)
NM_004999.4(MYO6):c.3099G>T (p.Ala1033=)
NM_004999.4(MYO6):c.3103C>A (p.Arg1035=) rs551471138
NM_004999.4(MYO6):c.3103C>T (p.Arg1035Trp)
NM_004999.4(MYO6):c.3107+19G>A rs538399704
NM_004999.4(MYO6):c.3107+19G>T
NM_004999.4(MYO6):c.3137+1G>A rs200713129
NM_004999.4(MYO6):c.3138-4G>A
NM_004999.4(MYO6):c.3176+14A>C
NM_004999.4(MYO6):c.3177-15G>A
NM_004999.4(MYO6):c.3177-3C>T rs747051401
NM_004999.4(MYO6):c.3197C>T (p.Thr1066Ile) rs1312339926
NM_004999.4(MYO6):c.3200A>C (p.Lys1067Thr)
NM_004999.4(MYO6):c.3235A>G (p.Lys1079Glu)
NM_004999.4(MYO6):c.3256_3257dup (p.Asp1087fs) rs2149415255
NM_004999.4(MYO6):c.3278G>A (p.Cys1093Tyr)
NM_004999.4(MYO6):c.3280+3_3280+6del
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.3301T>G (p.Cys1101Gly)
NM_004999.4(MYO6):c.3321G>A (p.Arg1107=)
NM_004999.4(MYO6):c.3376del (p.Thr1126fs)
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.3520C>T (p.Pro1174Ser)
NM_004999.4(MYO6):c.3531C>T (p.Arg1177=)
NM_004999.4(MYO6):c.3567A>G (p.Lys1189=)
NM_004999.4(MYO6):c.359T>C (p.Leu120Pro)
NM_004999.4(MYO6):c.3607G>T (p.Ala1203Ser)
NM_004999.4(MYO6):c.3631G>A (p.Asp1211Asn)
NM_004999.4(MYO6):c.3659-5T>C
NM_004999.4(MYO6):c.3715A>T (p.Lys1239Ter)
NM_004999.4(MYO6):c.3718_3719del (p.Arg1240fs) rs1781031440
NM_004999.4(MYO6):c.3723T>C (p.Gly1241=)
NM_004999.4(MYO6):c.3742C>G (p.Gln1248Glu)
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.3851dup (p.Leu1284fs)
NM_004999.4(MYO6):c.392-20A>G
NM_004999.4(MYO6):c.467G>A (p.Gly156Asp)
NM_004999.4(MYO6):c.473C>G (p.Thr158Arg)
NM_004999.4(MYO6):c.522A>G (p.Thr174=)
NM_004999.4(MYO6):c.539A>C (p.Asp180Ala)
NM_004999.4(MYO6):c.553+17A>G
NM_004999.4(MYO6):c.554-1G>A
NM_004999.4(MYO6):c.554-4A>G
NM_004999.4(MYO6):c.584C>A (p.Ala195Glu) rs772421255
NM_004999.4(MYO6):c.614G>A (p.Arg205Gln) rs2150250121
NM_004999.4(MYO6):c.652-9G>T
NM_004999.4(MYO6):c.667G>A (p.Gly223Arg)
NM_004999.4(MYO6):c.728G>T (p.Arg243Ile)
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_004999.4(MYO6):c.817-1G>A rs1057523846
NM_004999.4(MYO6):c.853A>G (p.Lys285Glu)
NM_004999.4(MYO6):c.854_855del (p.Lys285fs)
NM_004999.4(MYO6):c.866_869del (p.Lys289fs) rs749752357
NM_004999.4(MYO6):c.884G>A (p.Arg295His)
NM_004999.4(MYO6):c.897+19C>G
NM_004999.4(MYO6):c.922G>C (p.Asp308His) rs764615017
NM_004999.4(MYO6):c.926C>G (p.Pro309Arg)
NM_004999.4(MYO6):c.933A>G (p.Leu311=)

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