ClinVar Miner

List of variants reported as likely benign for Myopathy, proximal, and ophthalmoplegia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 385
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.2967A>G (p.Ala989=) rs113190032 0.01110
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329 0.00456
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) rs11658164 0.00123
NM_017534.6(MYH2):c.3048G>A (p.Leu1016=) rs145796634 0.00104
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_017534.6(MYH2):c.4379C>G (p.Ala1460Gly) rs148693677 0.00099
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551 0.00091
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915 0.00085
NM_017534.6(MYH2):c.3308A>T (p.Glu1103Val) rs139295564 0.00085
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His) rs143341678 0.00063
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=) rs140527143 0.00052
NM_017534.6(MYH2):c.87T>C (p.Asn29=) rs148217318 0.00050
NM_017534.6(MYH2):c.1898-3C>T rs370752980 0.00044
NM_017534.6(MYH2):c.332C>T (p.Ala111Val) rs140468333 0.00040
NM_017534.6(MYH2):c.3872-16T>C rs199732843 0.00039
NM_017534.6(MYH2):c.882G>A (p.Ser294=) rs201035972 0.00039
NM_017534.6(MYH2):c.1250G>C (p.Gly417Ala) rs201775814 0.00037
NM_017534.6(MYH2):c.3000G>A (p.Lys1000=) rs573063758 0.00036
NM_017534.6(MYH2):c.2304+7T>G rs370223713 0.00034
NM_017534.6(MYH2):c.3582A>G (p.Thr1194=) rs200505060 0.00034
NM_017534.6(MYH2):c.1275C>T (p.Asn425=) rs151000841 0.00029
NM_017534.6(MYH2):c.1305C>T (p.Tyr435=) rs539415599 0.00027
NM_017534.6(MYH2):c.4537+7C>T rs375199452 0.00026
NM_017534.6(MYH2):c.5346C>T (p.Ser1782=) rs199864744 0.00024
NM_017534.6(MYH2):c.5355G>T (p.Leu1785=) rs113280351 0.00021
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr) rs139691540 0.00019
NM_017534.6(MYH2):c.3531C>T (p.Phe1177=) rs148640299 0.00018
NM_017534.6(MYH2):c.1812G>A (p.Leu604=) rs371489019 0.00016
NM_017534.6(MYH2):c.2286T>C (p.Tyr762=) rs139196902 0.00016
NM_017534.6(MYH2):c.2631G>A (p.Lys877=) rs139585266 0.00016
NM_017534.6(MYH2):c.3029A>G (p.Gln1010Arg) rs148961199 0.00016
NM_017534.6(MYH2):c.3939C>A (p.Ala1313=) rs376472420 0.00016
NM_017534.6(MYH2):c.4407G>A (p.Thr1469=) rs144654838 0.00016
NM_017534.6(MYH2):c.4557G>A (p.Thr1519=) rs755267670 0.00016
NM_017534.6(MYH2):c.1536G>A (p.Thr512=) rs146376676 0.00015
NM_017534.6(MYH2):c.3354+10T>A rs201933458 0.00014
NM_017534.6(MYH2):c.5577+7C>A rs370883162 0.00014
NM_017534.6(MYH2):c.3477C>T (p.Ala1159=) rs193162376 0.00013
NM_017534.6(MYH2):c.506-20G>C rs368387130 0.00013
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=) rs751186949 0.00011
NM_017534.6(MYH2):c.4722C>T (p.Val1574=) rs561798452 0.00011
NM_017534.6(MYH2):c.4971+8T>C rs199537007 0.00011
NM_017534.6(MYH2):c.1566C>T (p.Ala522=) rs142383679 0.00010
NM_017534.6(MYH2):c.1959G>A (p.Val653=) rs376346567 0.00010
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn) rs202198533 0.00010
NM_017534.6(MYH2):c.3459C>T (p.Ser1153=) rs142095822 0.00010
NM_017534.6(MYH2):c.5577+12A>G rs368119845 0.00010
NM_017534.6(MYH2):c.741+15C>T rs374034315 0.00010
NM_017534.6(MYH2):c.1746G>A (p.Leu582=) rs778765592 0.00009
NM_017534.6(MYH2):c.609T>G (p.Gly203=) rs547575703 0.00009
NM_017534.6(MYH2):c.705C>T (p.Asn235=) rs201018335 0.00009
NM_017534.6(MYH2):c.1086T>C (p.Tyr362=) rs145946759 0.00008
NM_017534.6(MYH2):c.3097C>A (p.Leu1033Ile) rs201592726 0.00008
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=) rs376738763 0.00008
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=) rs139130605 0.00007
NM_017534.6(MYH2):c.4932G>A (p.Glu1644=) rs145740522 0.00007
NM_017534.6(MYH2):c.1227C>T (p.Val409=) rs563146441 0.00006
NM_017534.6(MYH2):c.2442-20T>C rs368701655 0.00006
NM_017534.6(MYH2):c.2601C>T (p.Asp867=) rs142129307 0.00006
NM_017534.6(MYH2):c.264C>T (p.Ile88=) rs138646250 0.00006
NM_017534.6(MYH2):c.4032C>T (p.His1344=) rs1042074 0.00006
NM_017534.6(MYH2):c.4128A>G (p.Gln1376=) rs369823867 0.00006
NM_017534.6(MYH2):c.41C>T (p.Ala14Val) rs770499680 0.00006
NM_017534.6(MYH2):c.4221G>A (p.Glu1407=) rs747573496 0.00006
NM_017534.6(MYH2):c.4818G>A (p.Thr1606=) rs201177363 0.00006
NM_017534.6(MYH2):c.156C>A (p.Ile52=) rs770211650 0.00005
NM_017534.6(MYH2):c.2347C>A (p.Arg783=) rs762121316 0.00005
NM_017534.6(MYH2):c.4110C>T (p.Ala1370=) rs377674160 0.00005
NM_017534.6(MYH2):c.649-18C>G rs774417322 0.00005
NM_017534.6(MYH2):c.741+18G>A rs368457931 0.00005
NM_017534.6(MYH2):c.177A>G (p.Lys59=) rs779105792 0.00004
NM_017534.6(MYH2):c.1821C>T (p.Thr607=) rs367835082 0.00004
NM_017534.6(MYH2):c.1830A>C (p.Gly610=) rs1041742576 0.00004
NM_017534.6(MYH2):c.2265C>T (p.Ile755=) rs146411264 0.00004
NM_017534.6(MYH2):c.2364C>T (p.Ala788=) rs369107023 0.00004
NM_017534.6(MYH2):c.3621C>T (p.Ala1207=) rs368762166 0.00004
NM_017534.6(MYH2):c.3642C>T (p.Asp1214=) rs776432522 0.00004
NM_017534.6(MYH2):c.4152C>T (p.Asp1384=) rs779665835 0.00004
NM_017534.6(MYH2):c.4269G>A (p.Thr1423=) rs762747511 0.00004
NM_017534.6(MYH2):c.5070G>A (p.Glu1690=) rs546668018 0.00004
NM_017534.6(MYH2):c.5580G>A (p.Thr1860=) rs761795343 0.00004
NM_017534.6(MYH2):c.600A>G (p.Ala200=) rs199961294 0.00004
NM_017534.6(MYH2):c.905-19T>C rs760446745 0.00004
NM_017534.6(MYH2):c.2181-5A>T rs199770682 0.00003
NM_017534.6(MYH2):c.2655G>A (p.Thr885=) rs141764966 0.00003
NM_017534.6(MYH2):c.2941-6T>C rs751299754 0.00003
NM_017534.6(MYH2):c.3489T>C (p.Thr1163=) rs780067831 0.00003
NM_017534.6(MYH2):c.4185C>T (p.Ala1395=) rs199982481 0.00003
NM_017534.6(MYH2):c.4812G>A (p.Gln1604=) rs781155016 0.00003
NM_017534.6(MYH2):c.1083T>C (p.His361=) rs754882670 0.00002
NM_017534.6(MYH2):c.1491C>T (p.Phe497=) rs1005296954 0.00002
NM_017534.6(MYH2):c.2163T>C (p.Tyr721=) rs771919379 0.00002
NM_017534.6(MYH2):c.2181-15T>C rs371894422 0.00002
NM_017534.6(MYH2):c.2703C>T (p.Ala901=) rs747870125 0.00002
NM_017534.6(MYH2):c.363C>G (p.Leu121=) rs780366788 0.00002
NM_017534.6(MYH2):c.3744+11T>G rs371861996 0.00002
NM_017534.6(MYH2):c.4839T>C (p.Ser1613=) rs1042185 0.00002
NM_017534.6(MYH2):c.5082G>A (p.Leu1694=) rs1462094022 0.00002
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=) rs1042270 0.00002
NM_017534.6(MYH2):c.1005A>G (p.Thr335=) rs148584222 0.00001
NM_017534.6(MYH2):c.1008+8G>A rs1177477956 0.00001
NM_017534.6(MYH2):c.122C>T (p.Ala41Val) rs765877777 0.00001
NM_017534.6(MYH2):c.1251C>A (p.Gly417=) rs746987085 0.00001
NM_017534.6(MYH2):c.1344G>A (p.Gln448=) rs752068908 0.00001
NM_017534.6(MYH2):c.1380C>T (p.Ile460=) rs1057356939 0.00001
NM_017534.6(MYH2):c.1495C>T (p.Leu499=) rs770838005 0.00001
NM_017534.6(MYH2):c.1569C>T (p.Cys523=) rs757583409 0.00001
NM_017534.6(MYH2):c.1581C>T (p.Ile527=) rs1050588952 0.00001
NM_017534.6(MYH2):c.1599C>A (p.Ile533=) rs1242525725 0.00001
NM_017534.6(MYH2):c.1605C>T (p.Ser535=) rs776466384 0.00001
NM_017534.6(MYH2):c.186G>T (p.Val62=) rs2073653873 0.00001
NM_017534.6(MYH2):c.1938G>A (p.Lys646=) rs140568348 0.00001
NM_017534.6(MYH2):c.19T>C (p.Leu7=) rs753844617 0.00001
NM_017534.6(MYH2):c.2031G>A (p.Arg677=) rs764492569 0.00001
NM_017534.6(MYH2):c.2124C>T (p.Ile708=) rs764971385 0.00001
NM_017534.6(MYH2):c.2181-14A>T rs763527495 0.00001
NM_017534.6(MYH2):c.2277C>T (p.His759=) rs755083709 0.00001
NM_017534.6(MYH2):c.2280C>A (p.Thr760=) rs891954130 0.00001
NM_017534.6(MYH2):c.2305-11T>G rs369500791 0.00001
NM_017534.6(MYH2):c.2441+13T>C rs181340024 0.00001
NM_017534.6(MYH2):c.2493G>A (p.Lys831=) rs778712421 0.00001
NM_017534.6(MYH2):c.2496C>T (p.His832=) rs757177803 0.00001
NM_017534.6(MYH2):c.2517C>T (p.Phe839=) rs1489105001 0.00001
NM_017534.6(MYH2):c.2940+7A>G rs960028879 0.00001
NM_017534.6(MYH2):c.3263+10A>T rs771160529 0.00001
NM_017534.6(MYH2):c.3263+11A>G rs890845570 0.00001
NM_017534.6(MYH2):c.3263+19C>T rs570103943 0.00001
NM_017534.6(MYH2):c.3564C>A (p.Thr1188=) rs776880055 0.00001
NM_017534.6(MYH2):c.4023T>C (p.Ser1341=) rs1232533849 0.00001
NM_017534.6(MYH2):c.4098A>G (p.Ala1366=) rs1199962484 0.00001
NM_017534.6(MYH2):c.4143C>T (p.Tyr1381=) rs1042076 0.00001
NM_017534.6(MYH2):c.4338C>T (p.Ala1446=) rs1329410668 0.00001
NM_017534.6(MYH2):c.4371+11C>A rs746440872 0.00001
NM_017534.6(MYH2):c.4372-15G>A rs190385121 0.00001
NM_017534.6(MYH2):c.4392G>A (p.Gln1464=) rs1245033619 0.00001
NM_017534.6(MYH2):c.4533A>G (p.Leu1511=) rs1467089006 0.00001
NM_017534.6(MYH2):c.456G>A (p.Pro152=) rs772443784 0.00001
NM_017534.6(MYH2):c.4596G>A (p.Leu1532=) rs1449785747 0.00001
NM_017534.6(MYH2):c.4650A>G (p.Leu1550=) rs1386357039 0.00001
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys) rs529367667 0.00001
NM_017534.6(MYH2):c.483C>T (p.Asn161=) rs1597458366 0.00001
NM_017534.6(MYH2):c.4947C>T (p.Tyr1649=) rs3181659 0.00001
NM_017534.6(MYH2):c.4971+15G>C rs779161804 0.00001
NM_017534.6(MYH2):c.5121C>T (p.Ile1707=) rs780525531 0.00001
NM_017534.6(MYH2):c.5136C>G (p.Leu1712=) rs191349011 0.00001
NM_017534.6(MYH2):c.5304C>T (p.Ala1768=) rs562803081 0.00001
NM_017534.6(MYH2):c.533+19T>A rs752762468 0.00001
NM_017534.6(MYH2):c.5415G>A (p.Glu1805=) rs755909213 0.00001
NM_017534.6(MYH2):c.5473-6T>C rs781072001 0.00001
NM_017534.6(MYH2):c.5595G>A (p.Lys1865=) rs1173455486 0.00001
NM_017534.6(MYH2):c.5598T>C (p.Asn1866=) rs764826645 0.00001
NM_017534.6(MYH2):c.5667G>A (p.Glu1889=) rs1335303103 0.00001
NM_017534.6(MYH2):c.5736C>T (p.Ala1912=) rs755267432 0.00001
NM_017534.6(MYH2):c.5748T>C (p.Ala1916=) rs1028373681 0.00001
NM_017534.6(MYH2):c.5772C>T (p.Asn1924=) rs757669070 0.00001
NM_017534.6(MYH2):c.648+10A>C rs754960434 0.00001
NM_017534.6(MYH2):c.648+20T>A rs763440976 0.00001
NM_017534.6(MYH2):c.649-20G>C rs372967647 0.00001
NM_017534.6(MYH2):c.688C>T (p.Leu230=) rs375063863 0.00001
NM_017534.6(MYH2):c.978C>T (p.Ile326=) rs1001051198 0.00001
NM_017534.6(MYH2):c.1008+9A>G
NM_017534.6(MYH2):c.1068G>A (p.Thr356=) rs116419997
NM_017534.6(MYH2):c.1095A>G (p.Leu365=)
NM_017534.6(MYH2):c.1143A>C (p.Thr381=) rs2073530757
NM_017534.6(MYH2):c.1147+7A>G
NM_017534.6(MYH2):c.1148-16T>G
NM_017534.6(MYH2):c.1148-18A>G
NM_017534.6(MYH2):c.1236G>A (p.Glu412=) rs772987945
NM_017534.6(MYH2):c.1263A>G (p.Glu421=) rs1170405370
NM_017534.6(MYH2):c.1266+11A>T
NM_017534.6(MYH2):c.1266+7G>A
NM_017534.6(MYH2):c.1266+7G>C
NM_017534.6(MYH2):c.1299C>T (p.Ala433=)
NM_017534.6(MYH2):c.1338C>A (p.Ile446=) rs755412365
NM_017534.6(MYH2):c.1353C>T (p.Asp451=) rs2142313100
NM_017534.6(MYH2):c.138C>A (p.Ser46=)
NM_017534.6(MYH2):c.1401T>C (p.Gly467=) rs1597455437
NM_017534.6(MYH2):c.1417-10A>G
NM_017534.6(MYH2):c.1417-16A>G
NM_017534.6(MYH2):c.1434G>A (p.Gln478=)
NM_017534.6(MYH2):c.1455T>C (p.Asn485=)
NM_017534.6(MYH2):c.1467A>G (p.Gln489=) rs1433555287
NM_017534.6(MYH2):c.1482C>T (p.His494=)
NM_017534.6(MYH2):c.1497G>A (p.Leu499=)
NM_017534.6(MYH2):c.1521A>G (p.Glu507=)
NM_017534.6(MYH2):c.1542C>T (p.Ile514=)
NM_017534.6(MYH2):c.1548C>T (p.Phe516=)
NM_017534.6(MYH2):c.1587+12A>G
NM_017534.6(MYH2):c.15A>C (p.Ser5=)
NM_017534.6(MYH2):c.1641A>G (p.Thr547=)
NM_017534.6(MYH2):c.1647C>G (p.Thr549=) rs2142310791
NM_017534.6(MYH2):c.1656G>A (p.Lys552=) rs2142310777
NM_017534.6(MYH2):c.1659C>T (p.Asn553=)
NM_017534.6(MYH2):c.1680G>C (p.Leu560=) rs1254393512
NM_017534.6(MYH2):c.1806C>T (p.Asp602=) rs147705043
NM_017534.6(MYH2):c.1830A>T (p.Gly610=)
NM_017534.6(MYH2):c.1897+15T>C
NM_017534.6(MYH2):c.1897+7C>T
NM_017534.6(MYH2):c.1898-12C>T
NM_017534.6(MYH2):c.1923A>G (p.Lys641=) rs1333835750
NM_017534.6(MYH2):c.1975-9_1975-8inv
NM_017534.6(MYH2):c.2013C>A (p.Thr671=)
NM_017534.6(MYH2):c.204+20C>T
NM_017534.6(MYH2):c.2062+17T>C
NM_017534.6(MYH2):c.2063-12A>G
NM_017534.6(MYH2):c.2076T>C (p.His692=)
NM_017534.6(MYH2):c.2180+16T>C
NM_017534.6(MYH2):c.2180+7T>G
NM_017534.6(MYH2):c.2181-12G>A
NM_017534.6(MYH2):c.2181-7T>A rs2073450740
NM_017534.6(MYH2):c.2208C>T (p.Ile736=)
NM_017534.6(MYH2):c.2244T>C (p.Ser748=)
NM_017534.6(MYH2):c.2250G>A (p.Lys750=)
NM_017534.6(MYH2):c.2305-18A>C
NM_017534.6(MYH2):c.2305-19C>A
NM_017534.6(MYH2):c.2305-19C>T rs768809024
NM_017534.6(MYH2):c.2334C>G (p.Leu778=)
NM_017534.6(MYH2):c.2391G>A (p.Arg797=)
NM_017534.6(MYH2):c.2400G>A (p.Gly800=)
NM_017534.6(MYH2):c.2418G>A (p.Glu806=)
NM_017534.6(MYH2):c.2441+10del rs765025828
NM_017534.6(MYH2):c.2441+16T>A
NM_017534.6(MYH2):c.2441+7A>G rs1597452591
NM_017534.6(MYH2):c.2478C>T (p.Ser826=) rs2073428153
NM_017534.6(MYH2):c.2502C>G (p.Pro834=)
NM_017534.6(MYH2):c.2514C>A (p.Leu838=) rs1597452081
NM_017534.6(MYH2):c.2514C>T (p.Leu838=) rs1597452081
NM_017534.6(MYH2):c.2532T>G (p.Pro844=)
NM_017534.6(MYH2):c.2571C>G (p.Thr857=)
NM_017534.6(MYH2):c.2577G>A (p.Lys859=)
NM_017534.6(MYH2):c.2598A>G (p.Lys866=)
NM_017534.6(MYH2):c.2635C>T (p.Leu879=) rs2142303234
NM_017534.6(MYH2):c.2655G>C (p.Thr885=)
NM_017534.6(MYH2):c.2697+7T>C rs2073424364
NM_017534.6(MYH2):c.2698-20G>C
NM_017534.6(MYH2):c.2761C>T (p.Leu921=) rs2142301002
NM_017534.6(MYH2):c.276C>T (p.Ala92=) rs2142325071
NM_017534.6(MYH2):c.2940+12A>G
NM_017534.6(MYH2):c.2940+3ATCA[4] rs775655878
NM_017534.6(MYH2):c.2941-4G>C
NM_017534.6(MYH2):c.2941-8C>A
NM_017534.6(MYH2):c.2941-8C>T
NM_017534.6(MYH2):c.2997C>G (p.Thr999=)
NM_017534.6(MYH2):c.3099T>C (p.Leu1033=)
NM_017534.6(MYH2):c.3117+13T>C rs2142300140
NM_017534.6(MYH2):c.3117+16T>A rs748615133
NM_017534.6(MYH2):c.3192C>T (p.Asp1064=)
NM_017534.6(MYH2):c.3199T>C (p.Leu1067=)
NM_017534.6(MYH2):c.3263+12_3263+15del rs573872374
NM_017534.6(MYH2):c.3264-10T>A
NM_017534.6(MYH2):c.333A>T (p.Ala111=) rs202132767
NM_017534.6(MYH2):c.3354+11G>A
NM_017534.6(MYH2):c.3354+18del
NM_017534.6(MYH2):c.3355-12C>T
NM_017534.6(MYH2):c.3355-8A>G rs1555570464
NM_017534.6(MYH2):c.3435C>G (p.Leu1145=)
NM_017534.6(MYH2):c.3456C>T (p.Ile1152=)
NM_017534.6(MYH2):c.3471A>G (p.Glu1157=)
NM_017534.6(MYH2):c.349-10C>T rs2142321844
NM_017534.6(MYH2):c.349-14T>C
NM_017534.6(MYH2):c.349-5C>T rs777007197
NM_017534.6(MYH2):c.3492A>C (p.Ser1164=)
NM_017534.6(MYH2):c.3510C>T (p.Asn1170=) rs1226573854
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=) rs767243766
NM_017534.6(MYH2):c.3552G>C (p.Leu1184=) rs1597450591
NM_017534.6(MYH2):c.3555G>A (p.Glu1185=)
NM_017534.6(MYH2):c.357A>T (p.Ser119=) rs1438390266
NM_017534.6(MYH2):c.3594G>C (p.Leu1198=)
NM_017534.6(MYH2):c.3606T>C (p.His1202=)
NM_017534.6(MYH2):c.3702T>A (p.Ile1234=)
NM_017534.6(MYH2):c.3708C>T (p.Asp1236=) rs756540877
NM_017534.6(MYH2):c.3726A>G (p.Glu1242=)
NM_017534.6(MYH2):c.3745-18T>C
NM_017534.6(MYH2):c.3768G>T (p.Arg1256=)
NM_017534.6(MYH2):c.3774A>G (p.Leu1258=) rs1597449940
NM_017534.6(MYH2):c.3801A>G (p.Ser1267=)
NM_017534.6(MYH2):c.3816G>A (p.Gln1272=)
NM_017534.6(MYH2):c.3835C>T (p.Leu1279=)
NM_017534.6(MYH2):c.3843G>A (p.Ala1281=)
NM_017534.6(MYH2):c.3849G>A (p.Arg1283=) rs1349060342
NM_017534.6(MYH2):c.384C>G (p.Pro128=)
NM_017534.6(MYH2):c.384C>T (p.Pro128=) rs776836063
NM_017534.6(MYH2):c.3871+19G>A
NM_017534.6(MYH2):c.3882A>G (p.Ser1294=)
NM_017534.6(MYH2):c.3919T>C (p.Leu1307=) rs1597449539
NM_017534.6(MYH2):c.3961T>C (p.Leu1321=) rs2142295884
NM_017534.6(MYH2):c.3966G>A (p.Lys1322=)
NM_017534.6(MYH2):c.3975T>C (p.Leu1325=)
NM_017534.6(MYH2):c.3990+7A>G
NM_017534.6(MYH2):c.3999C>T (p.Asn1333=)
NM_017534.6(MYH2):c.399T>C (p.Pro133=) rs11078850
NM_017534.6(MYH2):c.4008G>A (p.Ala1336=) rs764189342
NM_017534.6(MYH2):c.4008G>T (p.Ala1336=) rs764189342
NM_017534.6(MYH2):c.4026C>T (p.Ser1342=) rs1327908916
NM_017534.6(MYH2):c.4062G>A (p.Glu1354=) rs2142295471
NM_017534.6(MYH2):c.4083C>G (p.Ala1361=) rs780127918
NM_017534.6(MYH2):c.4083C>T (p.Ala1361=) rs780127918
NM_017534.6(MYH2):c.4092G>A (p.Gln1364=)
NM_017534.6(MYH2):c.4134G>A (p.Arg1378=)
NM_017534.6(MYH2):c.4140A>G (p.Lys1380=)
NM_017534.6(MYH2):c.4185C>G (p.Ala1395=)
NM_017534.6(MYH2):c.4187+16T>A
NM_017534.6(MYH2):c.4187+19G>C rs751997182
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)
NM_017534.6(MYH2):c.4227T>C (p.His1409=)
NM_017534.6(MYH2):c.4260C>T (p.Leu1420=)
NM_017534.6(MYH2):c.4275G>A (p.Gln1425=) rs2142294160
NM_017534.6(MYH2):c.4284G>A (p.Gln1428=) rs1597448706
NM_017534.6(MYH2):c.4287T>C (p.Asn1429=)
NM_017534.6(MYH2):c.4290G>A (p.Glu1430=)
NM_017534.6(MYH2):c.4293C>G (p.Val1431=)
NM_017534.6(MYH2):c.4293C>T (p.Val1431=)
NM_017534.6(MYH2):c.4296G>A (p.Glu1432=)
NM_017534.6(MYH2):c.4302C>T (p.Leu1434=)
NM_017534.6(MYH2):c.4317G>A (p.Glu1439=)
NM_017534.6(MYH2):c.435C>A (p.Gly145=)
NM_017534.6(MYH2):c.4365C>T (p.Phe1455=)
NM_017534.6(MYH2):c.4368T>C (p.Asp1456=)
NM_017534.6(MYH2):c.4371+12A>G
NM_017534.6(MYH2):c.4371+14C>T rs1182416611
NM_017534.6(MYH2):c.4371+15A>G
NM_017534.6(MYH2):c.4371+8C>G rs368534809
NM_017534.6(MYH2):c.4372-17A>C
NM_017534.6(MYH2):c.4452C>A (p.Gly1484=) rs2073340376
NM_017534.6(MYH2):c.4516C>A (p.Arg1506=) rs1597448386
NM_017534.6(MYH2):c.4537+12T>C rs2142293495
NM_017534.6(MYH2):c.4537+9C>A
NM_017534.6(MYH2):c.4538-14T>C
NM_017534.6(MYH2):c.453C>T (p.Ala151=)
NM_017534.6(MYH2):c.462C>T (p.His154=) rs1440894208
NM_017534.6(MYH2):c.4647T>C (p.Ala1549=)
NM_017534.6(MYH2):c.465C>A (p.Ile155=) rs777358650
NM_017534.6(MYH2):c.4662+15G>A rs2142293098
NM_017534.6(MYH2):c.4662+19A>G rs759241520
NM_017534.6(MYH2):c.468C>T (p.Phe156=) rs1555572051
NM_017534.6(MYH2):c.4731G>A (p.Glu1577=)
NM_017534.6(MYH2):c.4743A>G (p.Lys1581=) rs1267908976
NM_017534.6(MYH2):c.4770C>T (p.Asp1590=) rs1382560529
NM_017534.6(MYH2):c.4827T>C (p.Ala1609=) rs2142292649
NM_017534.6(MYH2):c.4836G>A (p.Arg1612=)
NM_017534.6(MYH2):c.4848T>C (p.Asp1616=)
NM_017534.6(MYH2):c.4950G>A (p.Arg1650=) rs2142292423
NM_017534.6(MYH2):c.4971+12C>T
NM_017534.6(MYH2):c.5013G>A (p.Glu1671=) rs748695702
NM_017534.6(MYH2):c.5031G>C (p.Leu1677=) rs2142292077
NM_017534.6(MYH2):c.505+10C>A
NM_017534.6(MYH2):c.505+17C>T
NM_017534.6(MYH2):c.5094G>A (p.Leu1698=)
NM_017534.6(MYH2):c.5235A>G (p.Gly1745=) rs746307508
NM_017534.6(MYH2):c.5250T>C (p.Ile1750=) rs1062504
NM_017534.6(MYH2):c.525C>T (p.Ile175=)
NM_017534.6(MYH2):c.5302-10del rs2073312748
NM_017534.6(MYH2):c.5302-5T>C
NM_017534.6(MYH2):c.5302-9G>T
NM_017534.6(MYH2):c.534-10G>A rs2142319744
NM_017534.6(MYH2):c.534-21_534-12del
NM_017534.6(MYH2):c.5359C>A (p.Arg1787=)
NM_017534.6(MYH2):c.5385C>T (p.Thr1795=)
NM_017534.6(MYH2):c.5553G>A (p.Arg1851=)
NM_017534.6(MYH2):c.5577+9A>G
NM_017534.6(MYH2):c.5578-19A>G rs2073305593
NM_017534.6(MYH2):c.5589T>C (p.Asp1863=)
NM_017534.6(MYH2):c.5652T>C (p.Tyr1884=) rs2142289887
NM_017534.6(MYH2):c.5674-16C>T
NM_017534.6(MYH2):c.5674-5C>T
NM_017534.6(MYH2):c.573T>A (p.Arg191=) rs2073593239
NM_017534.6(MYH2):c.5779C>A (p.Arg1927=) rs767382926
NM_017534.6(MYH2):c.633T>G (p.Thr211=)
NM_017534.6(MYH2):c.651G>T (p.Gly217=) rs2142319416
NM_017534.6(MYH2):c.741+11T>C rs1006764609
NM_017534.6(MYH2):c.741+17C>T
NM_017534.6(MYH2):c.75T>C (p.Ile25=) rs1426892693
NM_017534.6(MYH2):c.781C>T (p.Leu261=) rs1191670471
NM_017534.6(MYH2):c.805+12G>T
NM_017534.6(MYH2):c.805+16del
NM_017534.6(MYH2):c.806-20T>C
NM_017534.6(MYH2):c.904+19C>A
NM_017534.6(MYH2):c.904+19C>T
NM_017534.6(MYH2):c.905-17C>T
NM_017534.6(MYH2):c.905-8G>A
NM_017534.6(MYH2):c.924G>A (p.Thr308=)
NM_017534.6(MYH2):c.957G>A (p.Gly319=) rs770934297
NM_017534.6(MYH2):c.978C>A (p.Ile326=) rs1001051198
NM_017534.6(MYH2):c.994C>T (p.Leu332=) rs907817512

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