ClinVar Miner

List of variants in gene MYO6 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.2658+17C>T rs2295936 0.22603
NM_004999.4(MYO6):c.*12C>T rs12606 0.22544
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.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
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.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.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_004999.4(MYO6):c.2472T>G (p.Ile824Met) rs368132510 0.00014
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.2616G>T (p.Lys872Asn) rs139542573 0.00012
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.1748C>T (p.Ala583Val) rs766684928 0.00006
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys) rs200205409 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.2552A>C (p.Asp851Ala) rs142423106 0.00003
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro) rs727505048 0.00003
NM_004999.4(MYO6):c.3236A>G (p.Lys1079Arg) rs753378509 0.00003
NM_004999.4(MYO6):c.3386G>A (p.Arg1129His) rs779885818 0.00003
NM_004999.4(MYO6):c.3679T>C (p.Cys1227Arg) rs370061746 0.00003
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.2926G>T (p.Asp976Tyr) rs201168408 0.00002
NM_004999.4(MYO6):c.3505C>T (p.Arg1169Cys) rs144006872 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_004999.4(MYO6):c.1079-5A>G rs774020683 0.00001
NM_004999.4(MYO6):c.1212A>G (p.Gly404=) rs397517044 0.00001
NM_004999.4(MYO6):c.178G>C (p.Glu60Gln) rs757420692 0.00001
NM_004999.4(MYO6):c.1853G>A (p.Arg618Gln) rs777201018 0.00001
NM_004999.4(MYO6):c.2286+8T>C rs780274416 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_004999.4(MYO6):c.2507G>A (p.Arg836His) rs876657909 0.00001
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) rs121912561 0.00001
NM_004999.4(MYO6):c.2658+8A>G rs397517048 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_004999.4(MYO6):c.3137+5G>A rs397517050 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.647A>T (p.Glu216Val) rs121912559 0.00001
NM_004999.4(MYO6):c.887A>G (p.Lys296Arg) rs1402918571 0.00001
NM_004999.4(MYO6):c.-12CCT[1] rs727504951
NM_004999.4(MYO6):c.1250A>G (p.Asn417Ser) rs1554210769
NM_004999.4(MYO6):c.1264G>A (p.Ala422Thr) rs1583287198
NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp) rs727504548
NM_004999.4(MYO6):c.1473+10A>G rs876657531
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.1695G>C (p.Leu565=) rs111033501
NM_004999.4(MYO6):c.1881CAA[1] (p.Asn628del) rs1233700794
NM_004999.4(MYO6):c.2107G>C (p.Gly703Arg) rs753163582
NM_004999.4(MYO6):c.2111dup (p.Tyr705fs) rs397517045
NM_004999.4(MYO6):c.2170G>C (p.Asp724His) rs397517046
NM_004999.4(MYO6):c.2548C>G (p.Leu850Val) rs397517047
NM_004999.4(MYO6):c.2562T>A (p.Asn854Lys) rs1583365903
NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs) rs1583208411
NM_004999.4(MYO6):c.2733T>C (p.Ser911=) rs1554218577
NM_004999.4(MYO6):c.2779A>G (p.Arg927Gly) rs986223790
NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs) rs876657709
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter) rs876657653
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_004999.4(MYO6):c.2911A>G (p.Arg971Gly) rs397517049
NM_004999.4(MYO6):c.292A>G (p.Asn98Asp) rs876657910
NM_004999.4(MYO6):c.2972G>A (p.Arg991Gln) rs529167250
NM_004999.4(MYO6):c.3207T>C (p.Ala1069=) rs727505051
NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs) rs727505015
NM_004999.4(MYO6):c.3270T>C (p.Asn1090=) rs139395133
NM_004999.4(MYO6):c.3326T>C (p.Leu1109Pro) rs1554222430
NM_004999.4(MYO6):c.3391C>T (p.Pro1131Ser) rs727503327
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp) rs876657911
NM_004999.4(MYO6):c.3644T>C (p.Ile1215Thr) rs1554223853
NM_004999.4(MYO6):c.3646C>G (p.Leu1216Val) rs876657908
NM_004999.4(MYO6):c.3833C>T (p.Ala1278Val) rs397517052
NM_004999.4(MYO6):c.458C>G (p.Ser153Ter) rs876657710
NM_004999.4(MYO6):c.470A>G (p.Lys157Arg) rs397517053
NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr) rs1554205683
NM_004999.4(MYO6):c.558C>A (p.Asn186Lys) rs397517054
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_004999.4(MYO6):c.78del (p.Asp27fs) rs1771411002
NM_004999.4(MYO6):c.951T>C (p.Phe317=) rs397517055

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