ClinVar Miner

List of variants studied for atrial septal defect by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 308
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.3408G>A (p.Lys1136=) rs28730770 0.01687
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=) rs79143968 0.00344
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_004387.4(NKX2-5):c.335-162G>A rs200039950 0.00121
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=) rs140651265 0.00036
NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg) rs201919534 0.00033
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_002471.4(MYH6):c.2685+10C>T rs202155137 0.00024
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) rs374150672 0.00023
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser) rs200751434 0.00022
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) rs904519303 0.00022
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) rs376002621 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.4536G>A (p.Ser1512=) rs142539180 0.00018
NM_002471.4(MYH6):c.4812T>C (p.Asp1604=) rs201667127 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_001077653.2(TBX20):c.1309C>T (p.Arg437Cys) rs200704561 0.00015
NM_002471.4(MYH6):c.3732+13C>T rs369889994 0.00015
NM_001077653.2(TBX20):c.1310G>A (p.Arg437His) rs375484585 0.00014
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00014
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) rs376682837 0.00014
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp) rs202120238 0.00013
NM_002471.4(MYH6):c.4526-9G>C rs201785356 0.00013
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) rs368366482 0.00013
NM_002471.4(MYH6):c.115G>A (p.Val39Met) rs142850511 0.00012
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val) rs368588052 0.00012
NM_005257.6(GATA6):c.735G>A (p.Gly245=) rs1031755167 0.00012
NM_001077653.2(TBX20):c.457G>A (p.Val153Ile) rs776152314 0.00011
NM_002471.4(MYH6):c.2097C>T (p.Gly699=) rs149734381 0.00011
NM_002471.4(MYH6):c.2805C>T (p.Asn935=) rs757958461 0.00011
NM_002471.4(MYH6):c.2929-3C>T rs376752266 0.00011
NM_002471.4(MYH6):c.2973C>T (p.Ile991=) rs374807345 0.00011
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_002471.4(MYH6):c.7G>A (p.Asp3Asn) rs371667049 0.00011
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) rs150581386 0.00011
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_002471.4(MYH6):c.1662C>T (p.Tyr554=) rs374114140 0.00010
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) rs372446459 0.00010
NM_002471.4(MYH6):c.420C>T (p.Ala140=) rs145023897 0.00010
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) rs563978220 0.00010
NM_001077653.2(TBX20):c.418G>A (p.Val140Met) rs766745923 0.00009
NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp) rs372407808 0.00009
NM_002471.4(MYH6):c.203C>T (p.Thr68Met) rs751285148 0.00009
NM_002471.4(MYH6):c.2554G>A (p.Ala852Thr) rs776971183 0.00009
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00009
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp) rs751153777 0.00009
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys) rs780726611 0.00009
NM_002471.4(MYH6):c.4833C>T (p.Asn1611=) rs139329956 0.00009
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr) rs140892695 0.00008
NM_002471.4(MYH6):c.1141+11C>T rs373521230 0.00008
NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu) rs567433969 0.00008
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) rs368451573 0.00008
NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln) rs766238876 0.00008
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) rs387906776 0.00008
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.5501G>A (p.Arg1834His) rs202132499 0.00007
NM_002471.4(MYH6):c.642+4C>T rs369858520 0.00007
NM_001077653.2(TBX20):c.599T>C (p.Met200Thr) rs151183955 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.226G>A (p.Val76Met) rs977234074 0.00006
NM_002471.4(MYH6):c.2716C>T (p.Arg906Cys) rs143928061 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.4651-14C>A rs902807471 0.00006
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys) rs397516771 0.00006
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His) rs778287981 0.00006
NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln) rs762103586 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.800-5C>T rs727505228 0.00006
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) rs754229011 0.00006
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) rs376792087 0.00006
NM_005159.5(ACTC1):c.129+18C>A rs368977747 0.00006
NM_005257.6(GATA6):c.660C>T (p.Gly220=) rs1385756157 0.00006
NM_001077653.2(TBX20):c.426T>C (p.Pro142=) rs373924069 0.00005
NM_001077653.2(TBX20):c.86C>G (p.Ser29Cys) rs13237089 0.00005
NM_002471.4(MYH6):c.190G>A (p.Glu64Lys) rs750818212 0.00005
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His) rs544358806 0.00005
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met) rs373457153 0.00005
NM_002471.4(MYH6):c.5587C>T (p.Leu1863=) rs142767538 0.00005
NM_002471.4(MYH6):c.5661+9A>G rs373908250 0.00005
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr) rs556536964 0.00004
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.268A>G (p.Met90Val) rs778199745 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.3476C>T (p.Thr1159Met) rs780305056 0.00004
NM_002471.4(MYH6):c.3618C>T (p.Gly1206=) rs765103086 0.00004
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00004
NM_002471.4(MYH6):c.4525+3G>A rs750348638 0.00004
NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) rs201683868 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.5735C>T (p.Ala1912Val) rs373076710 0.00004
NM_002471.4(MYH6):c.610C>T (p.Arg204Cys) rs756369181 0.00004
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn) rs374692396 0.00004
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00004
NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu) rs781260821 0.00004
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) rs984722259 0.00004
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) rs765528024 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 0.00004
NM_005159.5(ACTC1):c.*39C>T rs3729758 0.00004
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs) rs730880387 0.00004
NM_001077653.2(TBX20):c.785C>T (p.Thr262Met) rs747369702 0.00003
NM_002471.4(MYH6):c.2065C>A (p.Pro689Thr) rs748016197 0.00003
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg) rs772216708 0.00003
NM_002471.4(MYH6):c.2399G>A (p.Arg800His) rs535438755 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.3755G>A (p.Arg1252Gln) rs759454361 0.00003
NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser) rs544624250 0.00003
NM_002471.4(MYH6):c.4829G>A (p.Arg1610His) rs758792342 0.00003
NM_002471.4(MYH6):c.530+6C>T rs374289431 0.00003
NM_002471.4(MYH6):c.5367G>A (p.Glu1789=) rs753335327 0.00003
NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp) rs759499155 0.00003
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu) rs730880152 0.00003
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val) rs768158277 0.00002
NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr) rs1002843684 0.00002
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.1520T>C (p.Ile507Thr) rs188023690 0.00002
NM_002471.4(MYH6):c.1535T>C (p.Ile512Thr) rs397516756 0.00002
NM_002471.4(MYH6):c.160C>T (p.Arg54Trp) rs369366244 0.00002
NM_002471.4(MYH6):c.212T>C (p.Val71Ala) rs769686237 0.00002
NM_002471.4(MYH6):c.2189T>C (p.Val730Ala) rs763963623 0.00002
NM_002471.4(MYH6):c.244C>T (p.Pro82Ser) rs754260713 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.3477G>A (p.Thr1159=) rs573242724 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.409G>A (p.Glu137Lys) rs752658033 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.4438A>G (p.Ser1480Gly) rs930701630 0.00002
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met) rs750721562 0.00002
NM_002471.4(MYH6):c.4793C>T (p.Ser1598Leu) rs536807961 0.00002
NM_002471.4(MYH6):c.481G>A (p.Ala161Thr) rs754736798 0.00002
NM_002471.4(MYH6):c.485A>G (p.Tyr162Cys) rs397516772 0.00002
NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys) rs748924413 0.00002
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) rs201383498 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.5695C>T (p.Arg1899Cys) rs371607892 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_004387.4(NKX2-5):c.510G>C (p.Gln170His) rs1489743522 0.00002
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys) rs751684900 0.00002
NM_005159.5(ACTC1):c.456C>T (p.Gly152=) rs771310484 0.00002
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) rs1194141406 0.00002
NM_001077653.2(TBX20):c.1046G>C (p.Trp349Ser) rs748900621 0.00001
NM_001077653.2(TBX20):c.395C>T (p.Thr132Ile) rs200630726 0.00001
NM_001077653.2(TBX20):c.413C>T (p.Ser138Leu) rs778902854 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys) rs752468331 0.00001
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) rs760169368 0.00001
NM_001308093.3(GATA4):c.1149G>A (p.Gln383=) rs751950851 0.00001
NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala) rs1217555878 0.00001
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) rs980402710 0.00001
NM_002471.4(MYH6):c.1373T>C (p.Ile458Thr) rs774807696 0.00001
NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys) rs375142167 0.00001
NM_002471.4(MYH6):c.1523A>T (p.Glu508Val) rs1017557276 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.182C>T (p.Ala61Val) rs730880148 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.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.2664C>T (p.Asp888=) rs755699724 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.3189G>C (p.Leu1063=) rs745729273 0.00001
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) rs375169402 0.00001
NM_002471.4(MYH6):c.3316C>A (p.Leu1106Ile) rs1595055372 0.00001
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=) rs529107714 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.4300G>A (p.Val1434Ile) rs397516769 0.00001
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His) rs142556730 0.00001
NM_002471.4(MYH6):c.4349A>C (p.Asn1450Thr) rs1005724382 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.4504C>A (p.Arg1502=) rs773631723 0.00001
NM_002471.4(MYH6):c.4713G>T (p.Lys1571Asn) rs730880151 0.00001
NM_002471.4(MYH6):c.4823G>A (p.Arg1608His) rs747494958 0.00001
NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser) rs776765616 0.00001
NM_002471.4(MYH6):c.493A>T (p.Met165Leu) rs972242173 0.00001
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
NM_002471.4(MYH6):c.5071C>T (p.Arg1691Cys) rs745747137 0.00001
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His) rs727504502 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.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.5797-2A>G rs751748384 0.00001
NM_002471.4(MYH6):c.68G>A (p.Arg23His) rs771786844 0.00001
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro) rs1320990570 0.00001
NM_002471.4(MYH6):c.779C>T (p.Ala260Val) rs1470827277 0.00001
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser) rs549161381 0.00001
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) rs201582515 0.00001
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly) rs1761356979 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu) rs549406766 0.00001
NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp) rs776310516 0.00001
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro) rs375435815 0.00001
NM_005159.5(ACTC1):c.129G>A (p.Gln43=) rs878854753 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr) rs771011464 0.00001
NM_001077653.2(TBX20):c.818C>T (p.Thr273Met) rs1554286367
NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn) rs149351193
NM_002471.4(MYH6):c.1002+1G>T rs776627067
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.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.1793dup (p.Asn598fs) rs774500922
NM_002471.4(MYH6):c.1868C>T (p.Ser623Phe) rs764362016
NM_002471.4(MYH6):c.201G>C (p.Lys67Asn) rs757559746
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.2578C>T (p.Arg860Cys) rs1025146248
NM_002471.4(MYH6):c.2717G>A (p.Arg906His) rs527636904
NM_002471.4(MYH6):c.325T>C (p.Tyr109His) rs926609805
NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys) rs372446459
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.3979-11_3979-9delinsG rs368229372
NM_002471.4(MYH6):c.3979-3dup rs770492637
NM_002471.4(MYH6):c.3979-7_3979-4del rs745326238
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) rs2277473
NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro) rs137983703
NM_002471.4(MYH6):c.4360-7C>T rs58949384
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.4685G>T (p.Arg1562Leu) rs371068881
NM_002471.4(MYH6):c.5002G>C (p.Asp1668His) rs200884672
NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp) rs767251436
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.569G>A (p.Arg190His) rs1891729151
NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del) rs1404018896
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
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) rs750029908
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) rs372282873
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_005159.4(ACTC1):c.*388G>C rs1370154
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn) rs730880408
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro) rs770397773
NM_005159.5(ACTC1):c.809-58TG[29] rs59431308
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) rs1253034411
NM_005257.6(GATA6):c.525G>T (p.Ala175=) rs759587190

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