ClinVar Miner

List of variants reported as uncertain significance for Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy by Invitae

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ClinVar version:
Total variants: 465
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815 0.00021
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr) rs370677725 0.00006
NM_001103.4(ACTN2):c.127-3C>A rs368775036 0.00005
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001103.4(ACTN2):c.1107G>A (p.Ser369=) rs369218950 0.00003
NM_001103.4(ACTN2):c.1507G>T (p.Ala503Ser) rs1057460296 0.00003
NM_001103.4(ACTN2):c.1541T>C (p.Ile514Thr) rs371954663 0.00003
NM_001103.4(ACTN2):c.1658G>C (p.Ser553Thr) rs778767257 0.00003
NM_001103.4(ACTN2):c.1919G>A (p.Arg640His) rs772909106 0.00003
NM_001103.4(ACTN2):c.1972G>C (p.Glu658Gln) rs374135486 0.00003
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415 0.00003
NM_001103.4(ACTN2):c.541A>G (p.Lys181Glu) rs779350391 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001103.4(ACTN2):c.1108-3C>T rs372488913 0.00002
NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu) rs200969588 0.00002
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411 0.00002
NM_001103.4(ACTN2):c.2039A>G (p.Gln680Arg) rs756567639 0.00002
NM_001103.4(ACTN2):c.2138C>T (p.Thr713Met) rs764538888 0.00002
NM_001103.4(ACTN2):c.2154+4C>T rs1342624709 0.00002
NM_001103.4(ACTN2):c.2154+5G>A rs767655336 0.00002
NM_001103.4(ACTN2):c.2356G>A (p.Gly786Ser) rs1012982310 0.00002
NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys) rs145450474 0.00002
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574 0.00002
NM_001103.4(ACTN2):c.265C>T (p.Arg89Trp) rs369629689 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr) rs776456711 0.00002
NM_001103.4(ACTN2):c.646A>G (p.Met216Val) rs749019847 0.00002
NM_001103.4(ACTN2):c.6C>A (p.Asn2Lys) rs755508640 0.00002
NM_001103.4(ACTN2):c.703G>A (p.Val235Met) rs754929573 0.00002
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser) rs1337069615 0.00002
NM_001103.4(ACTN2):c.892C>T (p.Arg298Cys) rs1060503683 0.00002
NM_001103.4(ACTN2):c.979C>T (p.Arg327Cys) rs769485633 0.00002
NM_001103.4(ACTN2):c.1154A>T (p.Tyr385Phe) rs929710704 0.00001
NM_001103.4(ACTN2):c.1181G>A (p.Arg394Gln) rs758358941 0.00001
NM_001103.4(ACTN2):c.1239C>G (p.His413Gln) rs771579640 0.00001
NM_001103.4(ACTN2):c.12A>G (p.Ile4Met) rs781720338 0.00001
NM_001103.4(ACTN2):c.1342G>A (p.Glu448Lys) rs764031568 0.00001
NM_001103.4(ACTN2):c.1358C>G (p.Ala453Gly) rs566860712 0.00001
NM_001103.4(ACTN2):c.136G>T (p.Ala46Ser) rs1311487466 0.00001
NM_001103.4(ACTN2):c.1418A>G (p.Tyr473Cys) rs957128342 0.00001
NM_001103.4(ACTN2):c.1475G>A (p.Arg492Gln) rs779702876 0.00001
NM_001103.4(ACTN2):c.1511T>C (p.Leu504Pro) rs1659281594 0.00001
NM_001103.4(ACTN2):c.1538C>A (p.Thr513Asn) rs749178520 0.00001
NM_001103.4(ACTN2):c.1609G>A (p.Glu537Lys) rs1401807611 0.00001
NM_001103.4(ACTN2):c.1626G>A (p.Met542Ile) rs1193302872 0.00001
NM_001103.4(ACTN2):c.1715G>A (p.Arg572Gln) rs141434302 0.00001
NM_001103.4(ACTN2):c.1726A>G (p.Met576Val) rs764719024 0.00001
NM_001103.4(ACTN2):c.1789A>C (p.Asn597His) rs1262131275 0.00001
NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968 0.00001
NM_001103.4(ACTN2):c.1891C>T (p.Arg631Cys) rs1446087607 0.00001
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys) rs780431842 0.00001
NM_001103.4(ACTN2):c.1945A>G (p.Ile649Val) rs759422747 0.00001
NM_001103.4(ACTN2):c.1952C>T (p.Pro651Leu) rs752552408 0.00001
NM_001103.4(ACTN2):c.1978A>T (p.Ile660Phe) rs768670466 0.00001
NM_001103.4(ACTN2):c.19G>A (p.Gly7Ser) rs1057523721 0.00001
NM_001103.4(ACTN2):c.2143T>C (p.Tyr715His) rs142922067 0.00001
NM_001103.4(ACTN2):c.2155-3T>C rs764437378 0.00001
NM_001103.4(ACTN2):c.2210A>C (p.Glu737Ala) rs982200490 0.00001
NM_001103.4(ACTN2):c.2387G>A (p.Arg796His) rs772409484 0.00001
NM_001103.4(ACTN2):c.241+2T>C rs1278815500 0.00001
NM_001103.4(ACTN2):c.242-3C>T rs770703958 0.00001
NM_001103.4(ACTN2):c.244G>A (p.Glu82Lys) rs139424431 0.00001
NM_001103.4(ACTN2):c.2554C>T (p.Arg852Trp) rs745317077 0.00001
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) rs533267299 0.00001
NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu) rs1395445136 0.00001
NM_001103.4(ACTN2):c.2609C>T (p.Ser870Leu) rs368754823 0.00001
NM_001103.4(ACTN2):c.2612G>T (p.Gly871Val) rs370341149 0.00001
NM_001103.4(ACTN2):c.2621G>A (p.Ser874Asn) rs1285035538 0.00001
NM_001103.4(ACTN2):c.2629G>T (p.Gly877Cys) rs754834889 0.00001
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr) rs1270659015 0.00001
NM_001103.4(ACTN2):c.2671G>T (p.Glu891Ter) rs1177830945 0.00001
NM_001103.4(ACTN2):c.32A>G (p.Asn11Ser) rs1449856891 0.00001
NM_001103.4(ACTN2):c.427A>C (p.Ile143Leu) rs786205453 0.00001
NM_001103.4(ACTN2):c.550C>T (p.Leu184Phe) rs1405476528 0.00001
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter) rs1253211384 0.00001
NM_001103.4(ACTN2):c.581G>A (p.Arg194Gln) rs528123945 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001103.4(ACTN2):c.706A>G (p.Asn236Asp) rs1193355360 0.00001
NM_001103.4(ACTN2):c.775G>A (p.Ala259Thr) rs574401232 0.00001
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val) rs566552494 0.00001
NM_001103.4(ACTN2):c.950A>G (p.Gln317Arg) rs970567732 0.00001
NM_001103.4(ACTN2):c.955A>G (p.Lys319Glu) rs754614411 0.00001
NM_001103.4(ACTN2):c.970C>T (p.Arg324Trp) rs747674727 0.00001
NC_000001.10:g.(?_236848754)_(236928931_?)dup
NC_000001.10:g.(?_236849954)_(236899988_?)dup
NC_000001.10:g.(?_236849954)_(236925939_?)dup
NC_000001.10:g.(?_236849954)_(237205889_?)dup
NC_000001.10:g.(?_236849954)_(237551503_?)dup
NC_000001.10:g.(?_236849974)_(236850119_?)dup
NC_000001.10:g.(?_236849974)_(236925919_?)del
NC_000001.10:g.(?_236849974)_(236925919_?)dup
NC_000001.10:g.(?_236881138)_(236925919_?)dup
NC_000001.10:g.(?_236902582)_(236902852_?)del
NC_000001.10:g.(?_236906176)_(236925919_?)del
NC_000001.10:g.(?_236917227)_(236920952_?)dup
NC_000001.11:g.(?_236751450)_(236762639_?)del
NC_000001.11:g.236718900_236718924del rs2102894768
NM_001103.4(ACTN2):c.1002G>C (p.Lys334Asn)
NM_001103.4(ACTN2):c.1009G>A (p.Glu337Lys) rs760884869
NM_001103.4(ACTN2):c.103G>A (p.Ala35Thr)
NM_001103.4(ACTN2):c.1069C>T (p.Arg357Cys)
NM_001103.4(ACTN2):c.107G>A (p.Trp36Ter) rs2102851395
NM_001103.4(ACTN2):c.1102G>C (p.Val368Leu)
NM_001103.4(ACTN2):c.1107+5G>A
NM_001103.4(ACTN2):c.1107+5G>T rs2102922727
NM_001103.4(ACTN2):c.1108-10A>G rs397516564
NM_001103.4(ACTN2):c.1108G>A (p.Asp370Asn) rs776851017
NM_001103.4(ACTN2):c.1109A>T (p.Asp370Val)
NM_001103.4(ACTN2):c.1112T>C (p.Ile371Thr)
NM_001103.4(ACTN2):c.1135G>A (p.Glu379Lys) rs1659115252
NM_001103.4(ACTN2):c.1150_1215dup (p.Gly384_Lys405dup) rs2102927362
NM_001103.4(ACTN2):c.1162T>G (p.Trp388Gly) rs376144003
NM_001103.4(ACTN2):c.1167_1168del (p.Leu389fs) rs2102927402
NM_001103.4(ACTN2):c.1169T>A (p.Leu390His) rs1479627329
NM_001103.4(ACTN2):c.1184del (p.Arg395fs) rs2102927467
NM_001103.4(ACTN2):c.1192C>G (p.Arg398Gly) rs148189507
NM_001103.4(ACTN2):c.1198G>A (p.Glu400Lys)
NM_001103.4(ACTN2):c.1204C>G (p.Leu402Val) rs1304791812
NM_001103.4(ACTN2):c.1210_1212delinsAAA (p.Glu404Lys) rs1558243133
NM_001103.4(ACTN2):c.1212G>T (p.Glu404Asp) rs1379352019
NM_001103.4(ACTN2):c.1219A>G (p.Arg407Gly)
NM_001103.4(ACTN2):c.1226A>G (p.Lys409Arg) rs863225115
NM_001103.4(ACTN2):c.122G>A (p.Arg41Lys) rs781746567
NM_001103.4(ACTN2):c.1232C>A (p.Ser411Ter) rs748441967
NM_001103.4(ACTN2):c.1242G>T (p.Glu414Asp) rs775057676
NM_001103.4(ACTN2):c.1255+1G>C rs1367331045
NM_001103.4(ACTN2):c.1255+3A>G
NM_001103.4(ACTN2):c.1255+4A>C rs1659121549
NM_001103.4(ACTN2):c.1255+5G>T
NM_001103.4(ACTN2):c.1255+6T>G rs1572135675
NM_001103.4(ACTN2):c.1255G>A (p.Gly419Ser) rs1164161500
NM_001103.4(ACTN2):c.1256-3C>T rs1553303028
NM_001103.4(ACTN2):c.126+2T>G
NM_001103.4(ACTN2):c.126+3C>T rs1665886801
NM_001103.4(ACTN2):c.1262A>G (p.Glu421Gly) rs2102929760
NM_001103.4(ACTN2):c.1263G>T (p.Glu421Asp) rs572642643
NM_001103.4(ACTN2):c.1264C>T (p.Gln422Ter) rs1659170214
NM_001103.4(ACTN2):c.1274T>C (p.Leu425Pro) rs1572137003
NM_001103.4(ACTN2):c.1287C>G (p.Tyr429Ter) rs764881077
NM_001103.4(ACTN2):c.1294G>C (p.Ala432Pro)
NM_001103.4(ACTN2):c.1304C>T (p.Thr435Ile)
NM_001103.4(ACTN2):c.130T>C (p.Phe44Leu)
NM_001103.4(ACTN2):c.1337C>A (p.Ala446Glu) rs767041933
NM_001103.4(ACTN2):c.1341C>G (p.Phe447Leu) rs34785693
NM_001103.4(ACTN2):c.1347C>A (p.Ser449Arg)
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.4(ACTN2):c.1349A>G (p.Asp450Gly)
NM_001103.4(ACTN2):c.1370G>A (p.Arg457His) rs781559530
NM_001103.4(ACTN2):c.1370G>T (p.Arg457Leu)
NM_001103.4(ACTN2):c.1379A>G (p.Gln460Arg) rs1659176119
NM_001103.4(ACTN2):c.1384G>A (p.Ala462Thr) rs376923220
NM_001103.4(ACTN2):c.1388C>G (p.Ala463Gly)
NM_001103.4(ACTN2):c.1406+11A>G rs2102930160
NM_001103.4(ACTN2):c.1407-541_1446del rs1572139563
NM_001103.4(ACTN2):c.1421A>G (p.His474Arg)
NM_001103.4(ACTN2):c.143G>C (p.Cys48Ser) rs794728959
NM_001103.4(ACTN2):c.143_144del (p.Trp47_Cys48insTer)
NM_001103.4(ACTN2):c.1442A>G (p.Asp481Gly) rs1057518451
NM_001103.4(ACTN2):c.1457T>C (p.Ile486Thr) rs1659279364
NM_001103.4(ACTN2):c.1460G>T (p.Cys487Phe) rs727504619
NM_001103.4(ACTN2):c.1462G>T (p.Asp488Tyr) rs1553303427
NM_001103.4(ACTN2):c.1465C>T (p.Gln489Ter) rs1659279726
NM_001103.4(ACTN2):c.1469G>A (p.Trp490Ter) rs1572140129
NM_001103.4(ACTN2):c.1473C>G (p.Asp491Glu)
NM_001103.4(ACTN2):c.1474C>T (p.Arg492Ter)
NM_001103.4(ACTN2):c.1484C>A (p.Thr495Lys) rs200248944
NM_001103.4(ACTN2):c.1494G>C (p.Gln498His) rs1413564541
NM_001103.4(ACTN2):c.1499G>A (p.Arg500Lys)
NM_001103.4(ACTN2):c.1508C>A (p.Ala503Asp) rs1572140190
NM_001103.4(ACTN2):c.1516-3T>C rs2102936291
NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly) rs794728967
NM_001103.4(ACTN2):c.1531C>G (p.Leu511Val) rs2102936333
NM_001103.4(ACTN2):c.1532T>C (p.Leu511Pro) rs786205346
NM_001103.4(ACTN2):c.1547A>G (p.Gln516Arg) rs1272875116
NM_001103.4(ACTN2):c.1547A>T (p.Gln516Leu)
NM_001103.4(ACTN2):c.1563T>G (p.Phe521Leu)
NM_001103.4(ACTN2):c.1573G>T (p.Ala525Ser)
NM_001103.4(ACTN2):c.1592G>A (p.Trp531Ter)
NM_001103.4(ACTN2):c.1601G>T (p.Gly534Val) rs1060503685
NM_001103.4(ACTN2):c.1606A>C (p.Met536Leu) rs755708114
NM_001103.4(ACTN2):c.1606A>G (p.Met536Val)
NM_001103.4(ACTN2):c.1607T>C (p.Met536Thr)
NM_001103.4(ACTN2):c.1609G>T (p.Glu537Ter)
NM_001103.4(ACTN2):c.1614T>G (p.Asp538Glu) rs368615266
NM_001103.4(ACTN2):c.161A>G (p.Lys54Arg)
NM_001103.4(ACTN2):c.1630A>G (p.Ile544Val)
NM_001103.4(ACTN2):c.1631T>C (p.Ile544Thr)
NM_001103.4(ACTN2):c.1637A>G (p.His546Arg) rs1659325362
NM_001103.4(ACTN2):c.1651A>G (p.Ile551Val)
NM_001103.4(ACTN2):c.1656+1G>A
NM_001103.4(ACTN2):c.1656+3A>G
NM_001103.4(ACTN2):c.1656+4A>C rs1659326105
NM_001103.4(ACTN2):c.1657-8G>A rs753249728
NM_001103.4(ACTN2):c.1667C>T (p.Thr556Ile)
NM_001103.4(ACTN2):c.1670C>G (p.Ala557Gly) rs1389785784
NM_001103.4(ACTN2):c.1670C>T (p.Ala557Val)
NM_001103.4(ACTN2):c.1686G>C (p.Lys562Asn)
NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys) rs1659393136
NM_001103.4(ACTN2):c.16C>G (p.Pro6Ala)
NM_001103.4(ACTN2):c.16C>T (p.Pro6Ser)
NM_001103.4(ACTN2):c.1703C>T (p.Ala568Val) rs776805533
NM_001103.4(ACTN2):c.1707C>A (p.Asp569Glu) rs773915011
NM_001103.4(ACTN2):c.1708G>C (p.Gly570Arg)
NM_001103.4(ACTN2):c.1723A>C (p.Ile575Leu) rs756815410
NM_001103.4(ACTN2):c.1727T>C (p.Met576Thr) rs1572143354
NM_001103.4(ACTN2):c.1730C>A (p.Ala577Asp)
NM_001103.4(ACTN2):c.1735C>T (p.Gln579Ter)
NM_001103.4(ACTN2):c.173A>G (p.Gln58Arg)
NM_001103.4(ACTN2):c.1757T>C (p.Ile586Thr)
NM_001103.4(ACTN2):c.1766ACA[1] (p.Asn590del)
NM_001103.4(ACTN2):c.1769A>G (p.Asn590Ser)
NM_001103.4(ACTN2):c.1775G>T (p.Arg592Ile) rs774780856
NM_001103.4(ACTN2):c.1780A>G (p.Ser594Gly) rs1572143496
NM_001103.4(ACTN2):c.1782C>G (p.Ser594Arg) rs2102939707
NM_001103.4(ACTN2):c.17C>G (p.Pro6Arg) rs2102851212
NM_001103.4(ACTN2):c.1808C>T (p.Thr603Ile)
NM_001103.4(ACTN2):c.1811T>C (p.Met604Thr)
NM_001103.4(ACTN2):c.1814A>G (p.Asp605Gly) rs1659399290
NM_001103.4(ACTN2):c.1826C>T (p.Thr609Ile)
NM_001103.4(ACTN2):c.1834G>A (p.Asp612Asn)
NM_001103.4(ACTN2):c.1839+4G>C
NM_001103.4(ACTN2):c.1841T>C (p.Val614Ala)
NM_001103.4(ACTN2):c.184A>G (p.Ile62Val) rs1658269503
NM_001103.4(ACTN2):c.1858A>G (p.Ile620Val) rs1659474887
NM_001103.4(ACTN2):c.1859T>A (p.Ile620Asn)
NM_001103.4(ACTN2):c.1901C>T (p.Ala634Val)
NM_001103.4(ACTN2):c.1903A>G (p.Asn635Asp) rs1659477097
NM_001103.4(ACTN2):c.1905C>A (p.Asn635Lys) rs772586220
NM_001103.4(ACTN2):c.1907A>G (p.Glu636Gly) rs1010571438
NM_001103.4(ACTN2):c.1909C>A (p.Arg637Ser)
NM_001103.4(ACTN2):c.190G>A (p.Glu64Lys) rs2102893489
NM_001103.4(ACTN2):c.1916G>A (p.Arg639Lys) rs1659477796
NM_001103.4(ACTN2):c.1919G>T (p.Arg640Leu)
NM_001103.4(ACTN2):c.1923G>T (p.Gln641His)
NM_001103.4(ACTN2):c.1940A>G (p.Asn647Ser) rs2102942643
NM_001103.4(ACTN2):c.1943C>G (p.Ala648Gly) rs1196167380
NM_001103.4(ACTN2):c.1948G>A (p.Gly650Arg) rs1173244523
NM_001103.4(ACTN2):c.1951C>A (p.Pro651Thr)
NM_001103.4(ACTN2):c.1951C>T (p.Pro651Ser)
NM_001103.4(ACTN2):c.1961A>G (p.Gln654Arg)
NM_001103.4(ACTN2):c.1974+4A>G
NM_001103.4(ACTN2):c.1974G>A (p.Glu658=)
NM_001103.4(ACTN2):c.1975-2A>G
NM_001103.4(ACTN2):c.1981G>T (p.Ala661Ser) rs2102943873
NM_001103.4(ACTN2):c.1989C>G (p.Ser663Arg)
NM_001103.4(ACTN2):c.1998G>C (p.Gln666His)
NM_001103.4(ACTN2):c.1A>G (p.Met1Val)
NM_001103.4(ACTN2):c.1_6del (p.Met1_Asn2del) rs1665879389
NM_001103.4(ACTN2):c.2008G>A (p.Ala670Thr)
NM_001103.4(ACTN2):c.200G>A (p.Arg67Lys) rs1658270003
NM_001103.4(ACTN2):c.2029C>T (p.Gln677Ter) rs2102943969
NM_001103.4(ACTN2):c.2033_2036dup (p.Lys679fs) rs2102943983
NM_001103.4(ACTN2):c.2053A>C (p.Ile685Leu)
NM_001103.4(ACTN2):c.2054TCA[1] (p.Ile686del) rs749678360
NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)
NM_001103.4(ACTN2):c.2069ACA[1] (p.Asn691del) rs757747164
NM_001103.4(ACTN2):c.2074A>G (p.Ile692Val)
NM_001103.4(ACTN2):c.2077G>A (p.Asp693Asn)
NM_001103.4(ACTN2):c.2078A>G (p.Asp693Gly) rs1572146545
NM_001103.4(ACTN2):c.2094C>A (p.Asp698Glu) rs1302931594
NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr) rs1659517244
NM_001103.4(ACTN2):c.2119G>A (p.Val707Ile)
NM_001103.4(ACTN2):c.2120T>C (p.Val707Ala)
NM_001103.4(ACTN2):c.2133G>C (p.Lys711Asn)
NM_001103.4(ACTN2):c.2154+19C>T
NM_001103.4(ACTN2):c.2155-4A>G rs201576900
NM_001103.4(ACTN2):c.2161C>G (p.Arg721Gly) rs149433837
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.2162G>C (p.Arg721Pro) rs546431200
NM_001103.4(ACTN2):c.2168G>C (p.Gly723Ala) rs906925808
NM_001103.4(ACTN2):c.2170T>C (p.Trp724Arg)
NM_001103.4(ACTN2):c.2171G>A (p.Trp724Ter)
NM_001103.4(ACTN2):c.2201C>T (p.Thr734Ile) rs886046207
NM_001103.4(ACTN2):c.2207A>G (p.Asn736Ser)
NM_001103.4(ACTN2):c.2212G>A (p.Val738Met)
NM_001103.4(ACTN2):c.2223G>C (p.Gln741His)
NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter) rs2102947099
NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val) rs1060503686
NM_001103.4(ACTN2):c.224T>G (p.Leu75Arg)
NM_001103.4(ACTN2):c.2264T>G (p.Met755Arg)
NM_001103.4(ACTN2):c.2279C>T (p.Ala760Val) rs1572149075
NM_001103.4(ACTN2):c.2281T>A (p.Ser761Thr)
NM_001103.4(ACTN2):c.2289C>G (p.Asn763Lys) rs745579917
NM_001103.4(ACTN2):c.2301+2T>C rs2102947209
NM_001103.4(ACTN2):c.2301G>C (p.Arg767Ser)
NM_001103.4(ACTN2):c.2302A>G (p.Arg768Gly)
NM_001103.4(ACTN2):c.2336G>C (p.Arg779Thr)
NM_001103.4(ACTN2):c.235A>G (p.Ile79Val)
NM_001103.4(ACTN2):c.2368-3C>A
NM_001103.4(ACTN2):c.2368-5C>A rs771427713
NM_001103.4(ACTN2):c.2373A>G (p.Glu791=) rs2102951481
NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu) rs772409484
NM_001103.4(ACTN2):c.2392A>G (p.Met798Val)
NM_001103.4(ACTN2):c.2404G>A (p.Asp802Asn)
NM_001103.4(ACTN2):c.2411A>G (p.Asn804Ser) rs776329264
NM_001103.4(ACTN2):c.242-3C>A
NM_001103.4(ACTN2):c.2425_2430del (p.Val809_Thr810del) rs1659690423
NM_001103.4(ACTN2):c.2428A>G (p.Thr810Ala)
NM_001103.4(ACTN2):c.242G>A (p.Gly81Glu) rs1658299884
NM_001103.4(ACTN2):c.2434C>T (p.Gln812Ter) rs2102951649
NM_001103.4(ACTN2):c.2436A>T (p.Gln812His)
NM_001103.4(ACTN2):c.2443A>G (p.Ile815Val)
NM_001103.4(ACTN2):c.2462A>G (p.Glu821Gly)
NM_001103.4(ACTN2):c.2465C>T (p.Thr822Met)
NM_001103.4(ACTN2):c.2468C>T (p.Ala823Val) rs12072499
NM_001103.4(ACTN2):c.2485G>A (p.Glu829Lys) rs770335717
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter) rs770335717
NM_001103.4(ACTN2):c.2488C>A (p.Gln830Lys)
NM_001103.4(ACTN2):c.2491G>C (p.Val831Leu) rs2102951840
NM_001103.4(ACTN2):c.2498C>T (p.Ala833Val)
NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser)
NM_001103.4(ACTN2):c.2513T>G (p.Leu838Arg)
NM_001103.4(ACTN2):c.2526+3C>T
NM_001103.4(ACTN2):c.2527-3C>T
NM_001103.4(ACTN2):c.2528C>A (p.Pro843Gln)
NM_001103.4(ACTN2):c.2530T>C (p.Tyr844His) rs1558252775
NM_001103.4(ACTN2):c.2538_2539delinsTC (p.Ala847Pro) rs2102953618
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser) rs1558232396
NM_001103.4(ACTN2):c.2545G>A (p.Glu849Lys) rs1659736554
NM_001103.4(ACTN2):c.2549T>G (p.Leu850Arg) rs2102953648
NM_001103.4(ACTN2):c.2557_2569del (p.Glu853fs)
NM_001103.4(ACTN2):c.2570A>G (p.Asp857Gly)
NM_001103.4(ACTN2):c.2576C>A (p.Ala859Asp) rs773297054
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.4(ACTN2):c.2599C>T (p.Pro867Ser) rs1659739403
NM_001103.4(ACTN2):c.2600C>T (p.Pro867Leu) rs1558252869
NM_001103.4(ACTN2):c.2606A>G (p.Tyr869Cys)
NM_001103.4(ACTN2):c.2614C>G (p.Pro872Ala)
NM_001103.4(ACTN2):c.2614C>T (p.Pro872Ser)
NM_001103.4(ACTN2):c.2614_2616delinsGAG (p.Pro872Glu)
NM_001103.4(ACTN2):c.262G>C (p.Asp88His) rs2102894794
NM_001103.4(ACTN2):c.2631_2632del (p.Ala878fs) rs878854174
NM_001103.4(ACTN2):c.2652C>G (p.Phe884Leu) rs1659743387
NM_001103.4(ACTN2):c.2653T>C (p.Ser885Pro) rs863224691
NM_001103.4(ACTN2):c.2662C>T (p.Leu888Phe)
NM_001103.4(ACTN2):c.2673G>C (p.Glu891Asp) rs1659744712
NM_001103.4(ACTN2):c.2674A>G (p.Ser892Gly)
NM_001103.4(ACTN2):c.2676C>G (p.Ser892Arg)
NM_001103.4(ACTN2):c.26A>C (p.Gln9Pro)
NM_001103.4(ACTN2):c.274A>G (p.Met92Val) rs1658300725
NM_001103.4(ACTN2):c.282C>A (p.Phe94Leu)
NM_001103.4(ACTN2):c.283C>T (p.His95Tyr) rs2102894844
NM_001103.4(ACTN2):c.297T>G (p.Asn99Lys)
NM_001103.4(ACTN2):c.303C>A (p.Asn101Lys)
NM_001103.4(ACTN2):c.31A>C (p.Asn11His) rs886046205
NM_001103.4(ACTN2):c.320T>C (p.Ile107Thr)
NM_001103.4(ACTN2):c.322G>A (p.Ala108Thr)
NM_001103.4(ACTN2):c.325A>G (p.Ser109Gly) rs1658302140
NM_001103.4(ACTN2):c.329A>T (p.Lys110Ile)
NM_001103.4(ACTN2):c.332G>T (p.Gly111Val) rs786204949
NM_001103.4(ACTN2):c.335T>A (p.Val112Glu) rs1658302587
NM_001103.4(ACTN2):c.343G>A (p.Val115Met) rs397516579
NM_001103.4(ACTN2):c.350_351delinsCC (p.Ile117Thr) rs2102894975
NM_001103.4(ACTN2):c.352G>A (p.Gly118Ser) rs1131691370
NM_001103.4(ACTN2):c.353G>A (p.Gly118Asp) rs794728960
NM_001103.4(ACTN2):c.35A>G (p.Tyr12Cys)
NM_001103.4(ACTN2):c.361+16G>A
NM_001103.4(ACTN2):c.361+8GT[3]
NM_001103.4(ACTN2):c.383A>G (p.Lys128Arg)
NM_001103.4(ACTN2):c.403T>G (p.Trp135Gly) rs1060503684
NM_001103.4(ACTN2):c.415C>T (p.Leu139Phe) rs2102896567
NM_001103.4(ACTN2):c.418C>T (p.Arg140Cys) rs1131691439
NM_001103.4(ACTN2):c.425C>T (p.Ala142Val)
NM_001103.4(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001103.4(ACTN2):c.439T>C (p.Ser147Pro) rs886038915
NM_001103.4(ACTN2):c.43G>A (p.Asp15Asn)
NM_001103.4(ACTN2):c.442G>C (p.Val148Leu)
NM_001103.4(ACTN2):c.446A>G (p.Glu149Gly)
NM_001103.4(ACTN2):c.447A>C (p.Glu149Asp)
NM_001103.4(ACTN2):c.449-3_449-2insTTCT
NM_001103.4(ACTN2):c.458C>T (p.Ala153Val)
NM_001103.4(ACTN2):c.464A>C (p.Glu155Ala) rs1658537536
NM_001103.4(ACTN2):c.496G>C (p.Ala166Pro) rs794728961
NM_001103.4(ACTN2):c.49dup (p.Asp17fs)
NM_001103.4(ACTN2):c.510T>A (p.Asn170Lys)
NM_001103.4(ACTN2):c.533C>G (p.Thr178Ser) rs1176106230
NM_001103.4(ACTN2):c.536+6C>T rs771398006
NM_001103.4(ACTN2):c.537-11C>G
NM_001103.4(ACTN2):c.537-1G>A rs1572121782
NM_001103.4(ACTN2):c.537-3A>T rs2102906436
NM_001103.4(ACTN2):c.538T>C (p.Trp180Arg) rs1558236027
NM_001103.4(ACTN2):c.539G>A (p.Trp180Ter)
NM_001103.4(ACTN2):c.53A>C (p.Glu18Ala) rs1237522987
NM_001103.4(ACTN2):c.547G>T (p.Gly183Cys)
NM_001103.4(ACTN2):c.556C>G (p.Leu186Val) rs371930065
NM_001103.4(ACTN2):c.557T>C (p.Leu186Pro) rs1658594390
NM_001103.4(ACTN2):c.565C>T (p.Leu189Phe)
NM_001103.4(ACTN2):c.569T>G (p.Ile190Ser)
NM_001103.4(ACTN2):c.56A>G (p.Tyr19Cys)
NM_001103.4(ACTN2):c.572A>G (p.His191Arg)
NM_001103.4(ACTN2):c.573C>A (p.His191Gln) rs1572121844
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe) rs760937883
NM_001103.4(ACTN2):c.593T>C (p.Ile198Thr) rs1658596173
NM_001103.4(ACTN2):c.601T>C (p.Ser201Pro) rs1060503687
NM_001103.4(ACTN2):c.608T>A (p.Leu203His)
NM_001103.4(ACTN2):c.615+1G>C rs2102906595
NM_001103.4(ACTN2):c.615+4_615+6del
NM_001103.4(ACTN2):c.616G>T (p.Asp206Tyr) rs1658704139
NM_001103.4(ACTN2):c.617A>G (p.Asp206Gly) rs148048699
NM_001103.4(ACTN2):c.619G>T (p.Asp207Tyr)
NM_001103.4(ACTN2):c.639C>A (p.Asn213Lys) rs1188575946
NM_001103.4(ACTN2):c.646A>T (p.Met216Leu)
NM_001103.4(ACTN2):c.64C>T (p.Gln22Ter) rs1553295414
NM_001103.4(ACTN2):c.655G>A (p.Ala219Thr) rs1246542277
NM_001103.4(ACTN2):c.65A>G (p.Gln22Arg)
NM_001103.4(ACTN2):c.65A>T (p.Gln22Leu) rs1057518609
NM_001103.4(ACTN2):c.674T>C (p.Ile225Thr)
NM_001103.4(ACTN2):c.674T>G (p.Ile225Ser) rs1553301462
NM_001103.4(ACTN2):c.67G>C (p.Glu23Gln)
NM_001103.4(ACTN2):c.686T>G (p.Leu229Trp) rs141793230
NM_001103.4(ACTN2):c.697+1G>A rs113669376
NM_001103.4(ACTN2):c.697G>A (p.Asp233Asn) rs904672923
NM_001103.4(ACTN2):c.698-10_1107+10del
NM_001103.4(ACTN2):c.698-11_698-10delinsAA
NM_001103.4(ACTN2):c.6C>G (p.Asn2Lys)
NM_001103.4(ACTN2):c.700A>G (p.Ile234Val) rs794728963
NM_001103.4(ACTN2):c.701T>A (p.Ile234Asn) rs2102916925
NM_001103.4(ACTN2):c.718_727del (p.Pro240fs) rs2102916959
NM_001103.4(ACTN2):c.721G>A (p.Asp241Asn) rs1342620732
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr) rs1060503682
NM_001103.4(ACTN2):c.764C>T (p.Ala255Val)
NM_001103.4(ACTN2):c.770C>T (p.Ala257Val) rs759652494
NM_001103.4(ACTN2):c.773G>T (p.Gly258Val)
NM_001103.4(ACTN2):c.778G>T (p.Glu260Ter)
NM_001103.4(ACTN2):c.782A>G (p.Gln261Arg)
NM_001103.4(ACTN2):c.783+4C>T
NM_001103.4(ACTN2):c.784-2A>G rs794728964
NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys)
NM_001103.4(ACTN2):c.791C>A (p.Thr264Lys)
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.4(ACTN2):c.797C>A (p.Ala266Asp)
NM_001103.4(ACTN2):c.800A>G (p.Asn267Ser)
NM_001103.4(ACTN2):c.801C>G (p.Asn267Lys)
NM_001103.4(ACTN2):c.806T>C (p.Ile269Thr) rs2102919139
NM_001103.4(ACTN2):c.814G>T (p.Val272Phe) rs2102919141
NM_001103.4(ACTN2):c.826A>G (p.Asn276Asp) rs876657743
NM_001103.4(ACTN2):c.827A>T (p.Asn276Ile)
NM_001103.4(ACTN2):c.82C>T (p.Arg28Cys) rs730880040
NM_001103.4(ACTN2):c.836A>C (p.Asn279Thr)
NM_001103.4(ACTN2):c.842G>A (p.Arg281Lys) rs1022501985
NM_001103.4(ACTN2):c.857A>G (p.Tyr286Cys)
NM_001103.4(ACTN2):c.85G>A (p.Asp29Asn)
NM_001103.4(ACTN2):c.863G>A (p.Arg288Lys)
NM_001103.4(ACTN2):c.868G>A (p.Ala290Thr)
NM_001103.4(ACTN2):c.876+1G>A
NM_001103.4(ACTN2):c.876+6G>A rs1658906175
NM_001103.4(ACTN2):c.877-3C>A
NM_001103.4(ACTN2):c.877-3C>T rs1174167762
NM_001103.4(ACTN2):c.877-6G>C
NM_001103.4(ACTN2):c.877C>A (p.Leu293Ile)
NM_001103.4(ACTN2):c.886T>G (p.Trp296Gly) rs2102922356
NM_001103.4(ACTN2):c.8A>G (p.Gln3Arg) rs1665879577
NM_001103.4(ACTN2):c.928G>A (p.Glu310Lys) rs1572132678
NM_001103.4(ACTN2):c.929A>G (p.Glu310Gly)
NM_001103.4(ACTN2):c.935C>T (p.Thr312Ile)
NM_001103.4(ACTN2):c.937A>G (p.Met313Val) rs754373136
NM_001103.4(ACTN2):c.941A>C (p.Gln314Pro) rs2102922490
NM_001103.4(ACTN2):c.953A>T (p.Lys318Met) rs2102922515
NM_001103.4(ACTN2):c.959T>C (p.Leu320Pro)
NM_001103.4(ACTN2):c.964G>T (p.Asp322Tyr) rs1416760371
NM_001103.4(ACTN2):c.971G>C (p.Arg324Pro) rs1240148760
NM_001103.4(ACTN2):c.989A>T (p.His330Leu)
NM_001103.4(ACTN2):c.998C>G (p.Pro333Arg)
NM_001103.4(ACTN2):c.9G>T (p.Gln3His) rs1553295387

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