ClinVar Miner

List of variants in gene MYH11, NDE1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 340
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HGVS dbSNP gnomAD frequency
NM_017668.3(NDE1):c.948-4103C>T rs2075512 0.65699
NM_017668.3(NDE1):c.947+7493G>T rs2242549 0.53349
NM_017668.3(NDE1):c.948-4415G>A rs17284411 0.52480
NM_017668.3(NDE1):c.*202G>A rs11130 0.47916
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_017668.3(NDE1):c.948-4837G>T rs11646134 0.41007
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494 0.21955
NM_017668.3(NDE1):c.948-6620A>G rs13338902 0.13374
NM_017668.3(NDE1):c.*899C>A rs79015533 0.11286
NM_017668.3(NDE1):c.948-340T>C rs7195874 0.10383
NM_017668.3(NDE1):c.*947G>A rs760023 0.09015
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907 0.08987
NM_017668.3(NDE1):c.*913A>C rs760024 0.08447
NM_017668.3(NDE1):c.948-3771A>G rs73519685 0.07995
NM_017668.3(NDE1):c.948-3578A>G rs57826272 0.07983
NM_017668.3(NDE1):c.948-4282C>A rs9935327 0.07975
NM_017668.3(NDE1):c.948-53G>A rs7193920 0.07945
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_017668.3(NDE1):c.948-7166G>C rs8059010 0.04849
NM_017668.3(NDE1):c.948-5952G>A rs12917928 0.04844
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_017668.3(NDE1):c.948-6794G>C rs76459240 0.03763
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_017668.3(NDE1):c.948-9502G>T rs71376094 0.03274
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_017668.3(NDE1):c.948-2270A>G rs150763893 0.02878
NM_017668.3(NDE1):c.947+12261T>C rs116441038 0.02763
NM_017668.3(NDE1):c.948-4650G>A rs113652000 0.01934
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_017668.3(NDE1):c.948-5057A>C rs112824610 0.01134
NM_017668.3(NDE1):c.948-2426A>G rs113153833 0.01111
NM_017668.3(NDE1):c.948-3111A>G rs113126316 0.01101
NM_017668.3(NDE1):c.948-7319G>C rs113546360 0.01097
NM_017668.3(NDE1):c.948-3000A>G rs113462408 0.01096
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_017668.3(NDE1):c.*384C>T rs193005461 0.00847
NM_017668.3(NDE1):c.947+12145C>T rs146779307 0.00796
NM_017668.3(NDE1):c.948-2942C>T rs147037725 0.00791
NM_017668.3(NDE1):c.948-5467G>C rs116923731 0.00757
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_017668.3(NDE1):c.948-3356G>A rs142108062 0.00664
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_017668.3(NDE1):c.948-7059C>G rs148691719 0.00511
NM_017668.3(NDE1):c.948-5498C>T rs148305743 0.00504
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_017668.3(NDE1):c.948-4244C>T rs144592555 0.00443
NM_017668.3(NDE1):c.948-3440C>T rs534968360 0.00352
NM_017668.3(NDE1):c.*286G>A rs558625464 0.00322
NM_017668.3(NDE1):c.947+7298G>T rs115195346 0.00274
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940 0.00116
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043 0.00093
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) rs760611400 0.00057
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg) rs143620567 0.00050
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
NM_017668.3(NDE1):c.947+7094G>T rs182768107 0.00041
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_017668.3(NDE1):c.948-6833A>G rs111858392 0.00039
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu) rs146043349 0.00036
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_017668.3(NDE1):c.948-9293G>A rs374454501 0.00034
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) rs138206921 0.00032
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00031
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=) rs113302393 0.00026
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) rs148938946 0.00025
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_002474.3(MYH11):c.4533C>T (p.Ala1511=) rs181548582 0.00021
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp) rs143402648 0.00020
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) rs185720909 0.00016
NM_002474.3(MYH11):c.4659C>T (p.Asp1553=) rs141031021 0.00016
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318 0.00016
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_017668.3(NDE1):c.990G>A (p.Arg330=) rs143588920 0.00014
NM_002474.3(MYH11):c.3891C>T (p.Asn1297=) rs541280738 0.00013
NM_002474.3(MYH11):c.4822G>A (p.Glu1608Lys) rs777768672 0.00013
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) rs144813247 0.00013
NM_002474.3(MYH11):c.4680C>T (p.Asp1560=) rs142613263 0.00012
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_002474.3(MYH11):c.4637C>T (p.Thr1546Met) rs753685135 0.00010
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744 0.00010
NM_002474.3(MYH11):c.5269G>A (p.Asp1757Asn) rs752996609 0.00010
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825 0.00010
NM_017668.3(NDE1):c.947+11924G>A rs373484327 0.00010
NM_002474.3(MYH11):c.4529A>G (p.Lys1510Arg) rs199713089 0.00009
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849 0.00009
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu) rs553877450 0.00008
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) rs145074004 0.00008
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947 0.00008
NM_002474.3(MYH11):c.3927C>T (p.Asp1309=) rs150712107 0.00007
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_017668.3(NDE1):c.947+11935C>T rs369832024 0.00007
NM_001040113.2(MYH11):c.5813C>A (p.Pro1938His) rs765030635 0.00006
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_002474.3(MYH11):c.3930G>A (p.Val1310=) rs369184213 0.00006
NM_002474.3(MYH11):c.4566C>T (p.Asp1522=) rs756552090 0.00006
NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) rs139418145 0.00006
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711 0.00006
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_017668.3(NDE1):c.948-5747G>A rs370786181 0.00006
NM_017668.3(NDE1):c.948-5750G>A rs979879255 0.00006
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln) rs775809843 0.00005
NM_002474.3(MYH11):c.4773G>A (p.Arg1591=) rs747923542 0.00005
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_017668.3(NDE1):c.948-9102G>A rs376174444 0.00005
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser) rs763280025 0.00004
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337 0.00004
NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp) rs777170587 0.00004
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn) rs549820613 0.00004
NM_002474.3(MYH11):c.5103G>T (p.Arg1701Ser) rs777827294 0.00004
NM_002474.3(MYH11):c.5214C>T (p.Ile1738=) rs1439627120 0.00004
NM_002474.3(MYH11):c.5368C>T (p.Leu1790Phe) rs777456120 0.00004
NM_002474.3(MYH11):c.5379G>A (p.Gln1793=) rs375230260 0.00004
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=) rs374486989 0.00004
NM_002474.3(MYH11):c.5742C>T (p.Asn1914=) rs146391904 0.00004
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) rs571504063 0.00004
NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr) rs146413415 0.00004
NM_017668.3(NDE1):c.*631A>G rs373371913 0.00004
NM_017668.3(NDE1):c.956C>T (p.Thr319Met) rs141262029 0.00004
NM_017668.3(NDE1):c.964C>T (p.Arg322Cys) rs763467593 0.00004
NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=) rs373899395 0.00003
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) rs369751362 0.00003
NM_002474.3(MYH11):c.4835G>A (p.Arg1612His) rs781252922 0.00003
NM_002474.3(MYH11):c.4933A>C (p.Lys1645Gln) rs375607145 0.00003
NM_002474.3(MYH11):c.5392C>T (p.Arg1798Trp) rs371581038 0.00003
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys) rs148743922 0.00003
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) rs79129097 0.00003
NM_002474.3(MYH11):c.5797G>A (p.Glu1933Lys) rs768566847 0.00003
NM_017668.3(NDE1):c.948-3357C>T rs376779423 0.00003
NM_017668.3(NDE1):c.980C>T (p.Ser327Leu) rs794728668 0.00003
NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=) rs778350253 0.00002
NM_002474.3(MYH11):c.4011G>C (p.Lys1337Asn) rs778284314 0.00002
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) rs374271463 0.00002
NM_002474.3(MYH11):c.4159G>A (p.Val1387Met) rs773946923 0.00002
NM_002474.3(MYH11):c.4224C>T (p.Tyr1408=) rs1346896885 0.00002
NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) rs151101824 0.00002
NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys) rs748356212 0.00002
NM_002474.3(MYH11):c.4993C>T (p.Arg1665Cys) rs768569707 0.00002
NM_002474.3(MYH11):c.5128A>G (p.Lys1710Glu) rs566447086 0.00002
NM_002474.3(MYH11):c.5166G>A (p.Ser1722=) rs746491351 0.00002
NM_002474.3(MYH11):c.5317C>T (p.Leu1773=) rs767453646 0.00002
NM_002474.3(MYH11):c.5328G>A (p.Glu1776=) rs773366562 0.00002
NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln) rs751495086 0.00002
NM_002474.3(MYH11):c.5443A>G (p.Thr1815Ala) rs764219360 0.00002
NM_002474.3(MYH11):c.5758G>A (p.Glu1920Lys) rs757099566 0.00002
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118 0.00002
NM_002474.3(MYH11):c.5789G>A (p.Arg1930Gln) rs769356338 0.00002
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=) rs764375446 0.00002
NM_001040113.2(MYH11):c.5821C>A (p.Gln1941Lys) rs765457680 0.00001
NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg) rs761957202 0.00001
NM_002474.3(MYH11):c.3895G>A (p.Ala1299Thr) rs1388360113 0.00001
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737 0.00001
NM_002474.3(MYH11):c.3933G>A (p.Ala1311=) rs78857360 0.00001
NM_002474.3(MYH11):c.3986G>A (p.Arg1329Gln) rs761662427 0.00001
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys) rs141184241 0.00001
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) rs370519992 0.00001
NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys) rs769227102 0.00001
NM_002474.3(MYH11):c.4237G>T (p.Ala1413Ser) rs1025147024 0.00001
NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile) rs758663266 0.00001
NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly) rs367746199 0.00001
NM_002474.3(MYH11):c.4480G>A (p.Glu1494Lys) rs375969176 0.00001
NM_002474.3(MYH11):c.4531G>A (p.Ala1511Thr) rs2040479391 0.00001
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn) rs200909802 0.00001
NM_002474.3(MYH11):c.4590G>A (p.Leu1530=) rs2040445031 0.00001
NM_002474.3(MYH11):c.4646A>T (p.Glu1549Val) rs374952057 0.00001
NM_002474.3(MYH11):c.4653G>A (p.Leu1551=) rs763247849 0.00001
NM_002474.3(MYH11):c.4662G>A (p.Glu1554=) rs747434041 0.00001
NM_002474.3(MYH11):c.4748G>A (p.Arg1583Gln) rs775908168 0.00001
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) rs794728680 0.00001
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) rs534983279 0.00001
NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln) rs190316422 0.00001
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464 0.00001
NM_002474.3(MYH11):c.4912A>G (p.Lys1638Glu) rs1060500728 0.00001
NM_002474.3(MYH11):c.4920G>A (p.Arg1640=) rs199638486 0.00001
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr) rs200410021 0.00001
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr) rs794729642 0.00001
NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile) rs761727438 0.00001
NM_002474.3(MYH11):c.5396G>A (p.Ser1799Asn) rs776016983 0.00001
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) rs780870767 0.00001
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe) rs759033733 0.00001
NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu) rs1005977032 0.00001
NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys) rs750085824 0.00001
NM_002474.3(MYH11):c.5766C>T (p.Asn1922=) rs764020019 0.00001
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=) rs761000142 0.00001
NM_017668.3(NDE1):c.947+7130C>G rs751944339 0.00001
NM_017668.3(NDE1):c.948-39G>A rs571613839 0.00001
NM_017668.3(NDE1):c.965G>A (p.Arg322His) rs766841864 0.00001
NM_017668.3(NDE1):c.987C>T (p.Thr329=) rs373591888 0.00001
GRCh37/hg19 16p13.11(chr16:15792748-15907589)x3
NM_001040113.2(MYH11):c.*8+1G>A
NM_001040113.2(MYH11):c.5813C>G (p.Pro1938Arg) rs765030635
NM_001040113.2(MYH11):c.5817C>A (p.Pro1939=) rs1057524493
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala) rs200884440
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu) rs111588143
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) rs747392139
NM_001040113.2(MYH11):c.5824G>A (p.Glu1942Lys)
NM_002474.3(MYH11):c.3873C>G (p.Ser1291Arg) rs140339691
NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu) rs151058774
NM_002474.3(MYH11):c.3880G>A (p.Gly1294Arg)
NM_002474.3(MYH11):c.3931G>A (p.Ala1311Thr)
NM_002474.3(MYH11):c.3959C>G (p.Thr1320Ser) rs2040673806
NM_002474.3(MYH11):c.3969G>A (p.Leu1323=) rs1180179941
NM_002474.3(MYH11):c.3981A>G (p.Glu1327=)
NM_002474.3(MYH11):c.4059C>A (p.Asp1353Glu) rs753575083
NM_002474.3(MYH11):c.4068G>A (p.Met1356Ile) rs794728663
NM_002474.3(MYH11):c.4071G>A (p.Glu1357=)
NM_002474.3(MYH11):c.4078C>G (p.Gln1360Glu) rs1555553235
NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe) rs147127121
NM_002474.3(MYH11):c.4120T>C (p.Ser1374Pro) rs2151218530
NM_002474.3(MYH11):c.4206G>A (p.Glu1402=) rs1567699651
NM_002474.3(MYH11):c.4227G>C (p.Glu1409Asp) rs2151218259
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr) rs794728676
NM_002474.3(MYH11):c.4241_4242inv (p.Ala1414Glu)
NM_002474.3(MYH11):c.4263C>T (p.Thr1421=)
NM_002474.3(MYH11):c.4342A>G (p.Lys1448Glu) rs2151217975
NM_002474.3(MYH11):c.4366-1G>A rs2151211152
NM_002474.3(MYH11):c.4408G>A (p.Glu1470Lys) rs753301051
NM_002474.3(MYH11):c.4459_4464del (p.Ser1487_Leu1488del) rs1555552158
NM_002474.3(MYH11):c.4538T>A (p.Met1513Lys) rs794728669
NM_002474.3(MYH11):c.4561G>A (p.Asp1521Asn) rs794728679
NM_002474.3(MYH11):c.4567G>A (p.Val1523Met)
NM_002474.3(MYH11):c.4578+1G>A rs397514037
NM_002474.3(MYH11):c.4578+2dup rs794728677
NM_002474.3(MYH11):c.4586_4598inv (p.Glu1529_Ser1533delinsGlyLeuLeuGlnLeu)
NM_002474.3(MYH11):c.4613A>C (p.Glu1538Ala) rs1343964791
NM_002474.3(MYH11):c.4632G>C (p.Met1544Ile) rs1064797005
NM_002474.3(MYH11):c.4663C>G (p.Leu1555Val) rs202231621
NM_002474.3(MYH11):c.4669G>A (p.Ala1557Thr) rs2040439329
NM_002474.3(MYH11):c.4699G>T (p.Val1567Phe) rs2151208581
NM_002474.3(MYH11):c.4762GAG[1] (p.Glu1589del)
NM_002474.3(MYH11):c.4773G>C (p.Arg1591Ser) rs747923542
NM_002474.3(MYH11):c.4819G>T (p.Asp1607Tyr)
NM_002474.3(MYH11):c.4825C>A (p.Arg1609=) rs1055960218
NM_002474.3(MYH11):c.4844C>T (p.Ala1615Val) rs2151206432
NM_002474.3(MYH11):c.4845A>G (p.Ala1615=)
NM_002474.3(MYH11):c.4915G>C (p.Gly1639Arg) rs151337580
NM_002474.3(MYH11):c.4949T>C (p.Leu1650Pro) rs1242915320
NM_002474.3(MYH11):c.4953+17G>A
NM_002474.3(MYH11):c.4953+2T>C
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) rs760908992
NM_002474.3(MYH11):c.5062G>C (p.Asp1688His) rs1239423939
NM_002474.3(MYH11):c.5083-1G>A rs1596712899
NM_002474.3(MYH11):c.5092_5093delinsAG (p.Ala1698Ser) rs2040340393
NM_002474.3(MYH11):c.5093C>T (p.Ala1698Val) rs779639232
NM_002474.3(MYH11):c.5107C>T (p.Arg1703Cys) rs201108170
NM_002474.3(MYH11):c.5117C>T (p.Ala1706Val)
NM_002474.3(MYH11):c.5163G>T (p.Leu1721=) rs777919235
NM_002474.3(MYH11):c.5215G>A (p.Ala1739Thr) rs1029371842
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[1] (p.1741LEEE[1]) rs777249764
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.1741LEEE[3]) rs777249764
NM_002474.3(MYH11):c.5230_5231delinsCT (p.Glu1744Leu)
NM_002474.3(MYH11):c.5328G>C (p.Glu1776Asp) rs773366562
NM_002474.3(MYH11):c.5329C>T (p.Arg1777Cys) rs1441546016
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) rs201960644
NM_002474.3(MYH11):c.5346G>C (p.Lys1782Asn)
NM_002474.3(MYH11):c.5364G>A (p.Gln1788=) rs1064797209
NM_002474.3(MYH11):c.5370C>G (p.Leu1790=) rs35295469
NM_002474.3(MYH11):c.5371G>A (p.Glu1791Lys) rs368269107
NM_002474.3(MYH11):c.5371G>C (p.Glu1791Gln) rs368269107
NM_002474.3(MYH11):c.5375G>C (p.Arg1792Pro) rs751495086
NM_002474.3(MYH11):c.5383A>G (p.Lys1795Glu)
NM_002474.3(MYH11):c.5392C>A (p.Arg1798=) rs371581038
NM_002474.3(MYH11):c.5411T>C (p.Met1804Thr) rs1085307503
NM_002474.3(MYH11):c.5471C>T (p.Ala1824Val)
NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile) rs185904370
NM_002474.3(MYH11):c.5490C>A (p.Val1830=) rs770582589
NM_002474.3(MYH11):c.5491G>A (p.Glu1831Lys) rs750433973
NM_002474.3(MYH11):c.5545A>G (p.Lys1849Glu) rs2151192751
NM_002474.3(MYH11):c.5562C>G (p.Ile1854Met)
NM_002474.3(MYH11):c.5573T>G (p.Val1858Gly) rs794728670
NM_002474.3(MYH11):c.5616A>C (p.Ala1872=)
NM_002474.3(MYH11):c.5619G>C (p.Glu1873Asp) rs762821036
NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp) rs749422717
NM_002474.3(MYH11):c.5732C>A (p.Thr1911Lys) rs748516947
NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg) rs760586766
NM_002474.3(MYH11):c.5759A>T (p.Glu1920Val) rs1290642611
NM_002474.3(MYH11):c.5767G>T (p.Ala1923Ser) rs571504063
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu) rs764285909
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002474.3(MYH11):c.5833C>T (p.Arg1945Cys) rs751862398
NM_002474.3(MYH11):c.5838_5839del (p.Arg1946fs) rs1258689018
NM_002474.3(MYH11):c.5854G>C (p.Asp1952His) rs2151159972
NM_002474.3(MYH11):c.5875dup (p.Asp1959fs) rs2151159904
NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter) rs772155686
NM_017668.3(NDE1):c.*367T>C rs138543179
NM_017668.3(NDE1):c.*388del rs543763112
NM_017668.3(NDE1):c.*898A>G rs550076836
NM_017668.3(NDE1):c.*898_*900del rs1394529790
NM_017668.3(NDE1):c.*898del rs60544332
NM_017668.3(NDE1):c.*898dup rs60544332
NM_017668.3(NDE1):c.1004G>A (p.Cys335Tyr) rs1596730121
NM_017668.3(NDE1):c.947+11893_947+11897del rs144505034
NM_017668.3(NDE1):c.947+11989AG[2] rs747642850
NM_017668.3(NDE1):c.947+11989AG[3] rs747642850
NM_017668.3(NDE1):c.947+12102_947+12106del rs139237029
NM_017668.3(NDE1):c.947+12229G>T rs9746950
NM_017668.3(NDE1):c.947+7069_947+7073del rs5815842
NM_017668.3(NDE1):c.947+7073dup rs5815842
NM_017668.3(NDE1):c.948-3135C>T rs759760029
NM_017668.3(NDE1):c.948-3446_948-3445insAAAAA rs113860317
NM_017668.3(NDE1):c.948-3465_948-3464del rs34491943
NM_017668.3(NDE1):c.948-3589dup rs79015002
NM_017668.3(NDE1):c.948-3625T>C rs144000719
NM_017668.3(NDE1):c.948-3873C>G rs766965358
NM_017668.3(NDE1):c.948-4460_948-4457del rs766943222
NM_017668.3(NDE1):c.948-5041G>A rs72772021
NM_017668.3(NDE1):c.948-5694C>A rs75982287
NM_017668.3(NDE1):c.948-7058C>A rs529718944
NM_017668.3(NDE1):c.948-7058C>T rs529718944
NM_017668.3(NDE1):c.948-7321_948-7320del rs142458525
NM_017668.3(NDE1):c.948-9289T>C rs2151191747
NM_017668.3(NDE1):c.948-9464C>G rs72772016
NM_017668.3(NDE1):c.956C>G (p.Thr319Arg)
Single allele

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