ClinVar Miner

List of variants in gene MYH6 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00146
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val) rs75487328 0.00027
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517 0.00027
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys) rs201193346 0.00022
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) rs376002621 0.00021
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00021
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His) rs372794975 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00015
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) rs376682837 0.00014
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00013
NM_002471.4(MYH6):c.3343-3C>A rs565446762 0.00011
NM_002471.4(MYH6):c.5662-6C>T rs183733802 0.00011
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp) rs142059069 0.00010
NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu) rs778319108 0.00008
NM_002471.4(MYH6):c.1002T>A (p.Asp334Glu) rs371859345 0.00007
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp) rs372736126 0.00007
NM_002471.4(MYH6):c.679G>A (p.Ala227Thr) rs201828188 0.00007
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr) rs556536964 0.00006
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg) rs367663906 0.00006
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys) rs149650190 0.00006
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys) rs397516762 0.00006
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp) rs111473291 0.00006
NM_002471.4(MYH6):c.1582-7C>T rs374941865 0.00005
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00005
NM_002471.4(MYH6):c.3860-15T>G rs200883903 0.00004
NM_002471.4(MYH6):c.5485G>C (p.Glu1829Gln) rs727504626 0.00004
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn) rs374692396 0.00004
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp) rs753444140 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val) rs373076710 0.00003
NM_002471.4(MYH6):c.1535T>C (p.Ile512Thr) rs397516756 0.00002
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys) rs778886029 0.00001
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met) rs727503238 0.00001
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) rs375169402 0.00001
NM_002471.4(MYH6):c.3285G>T (p.Lys1095Asn) rs864309578 0.00001
NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met) rs201051663 0.00001
NM_002471.4(MYH6):c.3784C>T (p.Arg1262Cys) rs397516763 0.00001
NM_002471.4(MYH6):c.3995C>T (p.Ala1332Val) rs876657876 0.00001
NM_002471.4(MYH6):c.4165G>A (p.Glu1389Lys) rs397516768 0.00001
NM_002471.4(MYH6):c.4176-6G>T rs760780588 0.00001
NM_002471.4(MYH6):c.4300G>A (p.Val1434Ile) rs397516769 0.00001
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His) rs142556730 0.00001
NM_002471.4(MYH6):c.1112A>G (p.Glu371Gly) rs397516754
NM_002471.4(MYH6):c.1328G>C (p.Arg443Pro) rs202096001
NM_002471.4(MYH6):c.1425G>C (p.Glu475Asp) rs397516755
NM_002471.4(MYH6):c.2368A>G (p.Met790Val) rs764284030
NM_002471.4(MYH6):c.2599A>G (p.Lys867Glu) rs397516759
NM_002471.4(MYH6):c.3181C>A (p.Leu1061Met) rs727503237
NM_002471.4(MYH6):c.3324G>T (p.Lys1108Asn) rs727505164
NM_002471.4(MYH6):c.3382C>T (p.Arg1128Cys) rs727505211
NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln) rs543585784
NM_002471.4(MYH6):c.3437dup (p.Glu1147fs) rs397516761
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg) rs564367705
NM_002471.4(MYH6):c.3857A>T (p.Asn1286Ile) rs772586397
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.3979-7_3979-6del rs796313537
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC rs727503235
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_002471.4(MYH6):c.4064C>T (p.Ala1355Val) rs397516767
NM_002471.4(MYH6):c.4175+1G>C rs727505128
NM_002471.4(MYH6):c.4207G>A (p.Glu1403Lys) rs769398160
NM_002471.4(MYH6):c.4360-7C>G rs58949384
NM_002471.4(MYH6):c.4430G>A (p.Arg1477His) rs147586142
NM_002471.4(MYH6):c.4595G>A (p.Arg1532His) rs34330111
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.4(MYH6):c.5296A>G (p.Met1766Val) rs397516776
NM_002471.4(MYH6):c.5700G>C (p.Lys1900Asn) rs397516778
NM_002471.4(MYH6):c.879C>G (p.Asn293Lys) rs752600386

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