ClinVar Miner

List of variants in gene MYH6 reported as uncertain significance for atrial septal defect

Included ClinVar conditions (62):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg) rs201919534 0.00033
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu) rs377716628 0.00029
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.5293G>A (p.Ala1765Thr) rs397516775 0.00015
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) rs376682837 0.00014
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) rs368451573 0.00014
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00013
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp) rs202120238 0.00013
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) rs372446459 0.00010
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp) rs200465713 0.00010
NM_002471.4(MYH6):c.2554G>A (p.Ala852Thr) rs776971183 0.00009
NM_002471.4(MYH6):c.2929-3C>T rs376752266 0.00009
NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu) rs567433969 0.00009
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp) rs751153777 0.00009
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala) rs759520932 0.00007
NM_002471.4(MYH6):c.3808C>T (p.Arg1270Cys) rs371849826 0.00007
NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln) rs766238876 0.00007
NM_002471.4(MYH6):c.5501G>A (p.Arg1834His) rs202132499 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.2258T>C (p.Ile753Thr) rs369729808 0.00006
NM_002471.4(MYH6):c.2951T>C (p.Met984Thr) rs202028680 0.00006
NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp) rs755209382 0.00006
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys) rs397516762 0.00006
NM_002471.4(MYH6):c.3923T>G (p.Leu1308Arg) rs776486154 0.00006
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp) rs111473291 0.00006
NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) rs367834703 0.00006
NM_002471.4(MYH6):c.5656G>A (p.Glu1886Lys) rs138864419 0.00006
NM_002471.4(MYH6):c.2716C>T (p.Arg906Cys) rs143928061 0.00005
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His) rs544358806 0.00005
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00005
NM_002471.4(MYH6):c.1639A>G (p.Met547Val) rs760722098 0.00004
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln) rs267606907 0.00004
NM_002471.4(MYH6):c.2612G>A (p.Arg871His) rs869025473 0.00004
NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys) rs756244326 0.00004
NM_002471.4(MYH6):c.3287T>C (p.Ile1096Thr) rs762901493 0.00004
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His) rs745801044 0.00004
NM_002471.4(MYH6):c.3618C>T (p.Gly1206=) rs765103086 0.00004
NM_002471.4(MYH6):c.4525+3G>A rs750348638 0.00004
NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu) rs747673552 0.00004
NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln) rs138720701 0.00004
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn) rs374692396 0.00004
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr) rs150272218 0.00003
NM_002471.4(MYH6):c.2018G>A (p.Arg673His) rs1023327699 0.00003
NM_002471.4(MYH6):c.2065C>A (p.Pro689Thr) rs748016197 0.00003
NM_002471.4(MYH6):c.2399G>A (p.Arg800His) rs535438755 0.00003
NM_002471.4(MYH6):c.2615G>A (p.Arg872His) rs773162706 0.00003
NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys) rs368912844 0.00003
NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser) rs753891816 0.00003
NM_002471.4(MYH6):c.3316C>A (p.Leu1106Ile) rs1595055372 0.00003
NM_002471.4(MYH6):c.3466G>A (p.Gly1156Ser) rs1378744560 0.00003
NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met) rs780305056 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_002471.4(MYH6):c.3755G>A (p.Arg1252Gln) rs759454361 0.00003
NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp) rs759499155 0.00003
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val) rs373076710 0.00003
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu) rs730880152 0.00003
NM_002471.4(MYH6):c.1210C>T (p.Arg404Trp) rs1271657601 0.00002
NM_002471.4(MYH6):c.1325C>T (p.Thr442Met) rs757040426 0.00002
NM_002471.4(MYH6):c.1373T>C (p.Ile458Thr) rs774807696 0.00002
NM_002471.4(MYH6):c.1535T>C (p.Ile512Thr) rs397516756 0.00002
NM_002471.4(MYH6):c.2189T>C (p.Val730Ala) rs763963623 0.00002
NM_002471.4(MYH6):c.2533G>A (p.Ala845Thr) rs989813600 0.00002
NM_002471.4(MYH6):c.2605G>A (p.Glu869Lys) rs774144472 0.00002
NM_002471.4(MYH6):c.3135G>T (p.Lys1045Asn) rs758449996 0.00002
NM_002471.4(MYH6):c.3481G>A (p.Val1161Met) rs762230455 0.00002
NM_002471.4(MYH6):c.3575C>T (p.Ala1192Val) rs765797952 0.00002
NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile) rs144761217 0.00002
NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile) rs768398107 0.00002
NM_002471.4(MYH6):c.4151G>A (p.Arg1384Gln) rs139265690 0.00002
NM_002471.4(MYH6):c.4192C>T (p.Arg1398Trp) rs374022661 0.00002
NM_002471.4(MYH6):c.4349A>C (p.Asn1450Thr) rs1005724382 0.00002
NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly) rs930701630 0.00002
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met) rs750721562 0.00002
NM_002471.4(MYH6):c.5341C>A (p.Leu1781Met) rs747585087 0.00002
NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val) rs767096302 0.00002
NM_002471.4(MYH6):c.5696G>A (p.Arg1899His) rs61731171 0.00002
NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter) rs763914096 0.00002
NM_002471.4(MYH6):c.704A>G (p.Lys235Arg) rs544293019 0.00002
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr) rs748143404 0.00002
NM_002471.4(MYH6):c.1002+1G>T rs776627067 0.00001
NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr) rs1002843684 0.00001
NM_002471.4(MYH6):c.1411-12T>C rs749244720 0.00001
NM_002471.4(MYH6):c.1486G>A (p.Val496Met) rs761085263 0.00001
NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys) rs375142167 0.00001
NM_002471.4(MYH6):c.1520T>C (p.Ile507Thr) rs188023690 0.00001
NM_002471.4(MYH6):c.1523A>T (p.Glu508Val) rs1017557276 0.00001
NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp) rs753062079 0.00001
NM_002471.4(MYH6):c.1726G>A (p.Ala576Thr) rs1488705293 0.00001
NM_002471.4(MYH6):c.1791A>T (p.Lys597Asn) rs1252826013 0.00001
NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr) rs886050409 0.00001
NM_002471.4(MYH6):c.1961G>A (p.Arg654Gln) rs763585076 0.00001
NM_002471.4(MYH6):c.2044G>T (p.Ala682Ser) rs927752391 0.00001
NM_002471.4(MYH6):c.2051-1G>A rs773772551 0.00001
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys) rs778886029 0.00001
NM_002471.4(MYH6):c.2169-8C>T rs1006825673 0.00001
NM_002471.4(MYH6):c.2292+1G>A rs771569935 0.00001
NM_002471.4(MYH6):c.2576G>C (p.Gly859Ala) rs779528748 0.00001
NM_002471.4(MYH6):c.2578C>T (p.Arg860Cys) rs1025146248 0.00001
NM_002471.4(MYH6):c.2684C>T (p.Ala895Val) rs1372933415 0.00001
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met) rs727503238 0.00001
NM_002471.4(MYH6):c.3140G>A (p.Arg1047His) rs775843647 0.00001
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) rs375169402 0.00001
NM_002471.4(MYH6):c.3289G>A (p.Glu1097Lys) rs150868324 0.00001
NM_002471.4(MYH6):c.3542A>T (p.Glu1181Val) rs1266983460 0.00001
NM_002471.4(MYH6):c.3584G>A (p.Arg1195His) rs747891865 0.00001
NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met) rs201051663 0.00001
NM_002471.4(MYH6):c.3838G>A (p.Ala1280Thr) rs762102758 0.00001
NM_002471.4(MYH6):c.3871C>T (p.Arg1291Trp) rs1372245953 0.00001
NM_002471.4(MYH6):c.3902C>T (p.Ser1301Leu) rs767570086 0.00001
NM_002471.4(MYH6):c.4097C>T (p.Ala1366Val) rs1085307922 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.4369G>A (p.Glu1457Lys) rs267606905 0.00001
NM_002471.4(MYH6):c.4394C>T (p.Ser1465Leu) rs766327056 0.00001
NM_002471.4(MYH6):c.4396C>G (p.Gln1466Glu) rs773067289 0.00001
NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys) rs1314169075 0.00001
NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr) rs146539406 0.00001
NM_002471.4(MYH6):c.5297T>C (p.Met1766Thr) rs760667847 0.00001
NM_002471.4(MYH6):c.5452G>C (p.Glu1818Gln) rs201494081 0.00001
NM_002471.4(MYH6):c.5459G>A (p.Arg1820Gln) rs371222772 0.00001
NM_002471.4(MYH6):c.5481G>C (p.Glu1827Asp) rs760865481 0.00001
NM_002471.4(MYH6):c.5540G>A (p.Arg1847Gln) rs767679378 0.00001
NM_002471.4(MYH6):c.5695C>T (p.Arg1899Cys) rs371607892 0.00001
NM_002471.4(MYH6):c.5797-2A>G rs751748384 0.00001
NM_002471.4(MYH6):c.779C>T (p.Ala260Val) rs1470827277 0.00001
NM_002471.4(MYH6):c.940G>A (p.Val314Met) rs1260228019 0.00001
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu) rs2138615086
NM_002471.4(MYH6):c.1138G>A (p.Glu380Lys) rs768924353
NM_002471.4(MYH6):c.1141+2T>C rs1595062631
NM_002471.4(MYH6):c.1185C>A (p.Asp395Glu) rs201822160
NM_002471.4(MYH6):c.1408G>A (p.Asp470Asn) rs777651128
NM_002471.4(MYH6):c.1521T>G (p.Ile507Met) rs142410102
NM_002471.4(MYH6):c.1673T>G (p.Leu558Arg)
NM_002471.4(MYH6):c.1793dup (p.Asn598fs) rs774500922
NM_002471.4(MYH6):c.1868C>T (p.Ser623Phe) rs764362016
NM_002471.4(MYH6):c.2051-2A>G rs2138604704
NM_002471.4(MYH6):c.2293-2A>C rs2138603387
NM_002471.4(MYH6):c.2428A>G (p.Arg810Gly) rs1060501428
NM_002471.4(MYH6):c.2440C>A (p.Leu814Met) rs150675144
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) rs369274077
NM_002471.4(MYH6):c.2717G>A (p.Arg906His) rs527636904
NM_002471.4(MYH6):c.2878G>A (p.Glu960Lys) rs1595056419
NM_002471.4(MYH6):c.3297_3302delinsACAGGC (p.Val1101Ala)
NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys) rs372446459
NM_002471.4(MYH6):c.3352G>A (p.Glu1118Lys) rs750174797
NM_002471.4(MYH6):c.3447C>T (p.Ser1149=) rs564367705
NM_002471.4(MYH6):c.3541G>C (p.Glu1181Gln) rs1033416176
NM_002471.4(MYH6):c.3562G>A (p.Glu1188Lys) rs767223211
NM_002471.4(MYH6):c.3578C>T (p.Ala1193Val) rs1038940910
NM_002471.4(MYH6):c.3946G>A (p.Asp1316Asn) rs2502156044
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_002471.4(MYH6):c.4100A>G (p.Asn1367Ser) rs1710268561
NM_002471.4(MYH6):c.4303G>C (p.Glu1435Gln)
NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro) rs137983703
NM_002471.4(MYH6):c.4395_4396delinsAG (p.Gln1466Glu) rs1555333437
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002471.4(MYH6):c.4496C>A (p.Thr1499Asn) rs2138587576
NM_002471.4(MYH6):c.4527G>T (p.Glu1509Asp)
NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp) rs767251436
NM_002471.4(MYH6):c.5513_5525del (p.Glu1837_Ser1838insTer) rs781119192
NM_002471.4(MYH6):c.5555T>C (p.Leu1852Pro) rs2138581208
NM_002471.4(MYH6):c.5628G>T (p.Lys1876Asn) rs1390751455
NM_002471.4(MYH6):c.5662-2A>G rs2138578417
NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val) rs762923098
NM_002471.4(MYH6):c.644G>T (p.Gly215Val) rs1323504358
NM_002471.4(MYH6):c.646A>G (p.Thr216Ala)
NM_002471.4(MYH6):c.675C>T (p.Asn225=) rs886050413
NM_002471.4(MYH6):c.694G>A (p.Gly232Ser) rs587782960
NM_002471.4(MYH6):c.730C>T (p.Arg244Cys) rs759116118
NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter) rs186265521

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