ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.4116+110C>T rs558625464 0.00322
NM_002474.3(MYH11):c.3859-157_3859-156insG rs1555553475 0.00089
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00054
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00031
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00029
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) rs148938946 0.00024
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.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln) rs150883363 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.4293C>T (p.Asp1431=) rs143588920 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.5269G>A (p.Asp1757Asn) rs752996609 0.00010
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825 0.00010
NM_002474.3(MYH11):c.4529A>G (p.Lys1510Arg) rs199713089 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.4117-6T>G rs370252949 0.00007
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 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.4235C>T (p.Ala1412Val) rs200391659 0.00006
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln) rs775809843 0.00005
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337 0.00005
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) rs139418145 0.00005
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_002474.3(MYH11):c.3963+6T>C rs373371913 0.00004
NM_002474.3(MYH11):c.4315C>G (p.Gln1439Glu) rs566506678 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.5392C>T (p.Arg1798Trp) rs371581038 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_002474.3(MYH11):c.4303G>A (p.Asp1435Asn) rs794728668 0.00003
NM_002474.3(MYH11):c.4319G>A (p.Arg1440Gln) rs763467593 0.00003
NM_002474.3(MYH11):c.4327G>A (p.Val1443Met) rs141262029 0.00003
NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) rs151101824 0.00003
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) rs369751362 0.00003
NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp) rs777170587 0.00003
NM_002474.3(MYH11):c.4791+5G>A rs376779423 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.5128A>G (p.Lys1710Glu) rs566447086 0.00003
NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu) rs756025504 0.00003
NM_002474.3(MYH11):c.5368C>T (p.Leu1790Phe) rs777456120 0.00003
NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln) rs751495086 0.00003
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys) rs148743922 0.00003
NM_002474.3(MYH11):c.5797G>A (p.Glu1933Lys) rs768566847 0.00003
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.4072G>T (p.Ala1358Ser) rs763280025 0.00002
NM_002474.3(MYH11):c.4123G>A (p.Asp1375Asn) rs143467011 0.00002
NM_002474.3(MYH11):c.4159G>A (p.Val1387Met) rs773946923 0.00002
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) rs534983279 0.00002
NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys) rs748356212 0.00002
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys) rs369409348 0.00002
NM_002474.3(MYH11):c.4993C>T (p.Arg1665Cys) rs768569707 0.00002
NM_002474.3(MYH11):c.5443A>G (p.Thr1815Ala) rs764219360 0.00002
NM_002474.3(MYH11):c.5449G>A (p.Ala1817Thr) rs370077312 0.00002
NM_002474.3(MYH11):c.5758G>A (p.Glu1920Lys) rs757099566 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_001040113.2(MYH11):c.5824G>A (p.Glu1942Lys) rs377366100 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.3931G>A (p.Ala1311Thr) rs1483548054 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.4090C>T (p.Arg1364Cys) rs769227102 0.00001
NM_002474.3(MYH11):c.4237G>T (p.Ala1413Ser) rs1025147024 0.00001
NM_002474.3(MYH11):c.4288G>A (p.Asp1430Asn) rs2040631334 0.00001
NM_002474.3(MYH11):c.4310A>G (p.Asp1437Gly) rs919816656 0.00001
NM_002474.3(MYH11):c.4318C>T (p.Arg1440Trp) rs766841864 0.00001
NM_002474.3(MYH11):c.4404G>A (p.Ala1468=) rs1011581295 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.4486T>G (p.Leu1496Val) rs568507502 0.00001
NM_002474.3(MYH11):c.4510C>T (p.Arg1504Trp) rs144823441 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.4646A>T (p.Glu1549Val) rs374952057 0.00001
NM_002474.3(MYH11):c.4728C>G (p.Phe1576Leu) rs765435868 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.4819G>T (p.Asp1607Tyr) rs771990666 0.00001
NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln) rs190316422 0.00001
NM_002474.3(MYH11):c.4912A>G (p.Lys1638Glu) rs1060500728 0.00001
NM_002474.3(MYH11):c.5031G>C (p.Glu1677Asp) rs765569537 0.00001
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr) rs200410021 0.00001
NM_002474.3(MYH11):c.5117C>T (p.Ala1706Val) rs533519322 0.00001
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr) rs794729642 0.00001
NM_002474.3(MYH11):c.5255T>C (p.Met1752Thr) rs999924172 0.00001
NM_002474.3(MYH11):c.5272C>T (p.Arg1758Trp) rs751148158 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.5453C>T (p.Ala1818Val) rs771343446 0.00001
NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu) rs1005977032 0.00001
NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile) rs185904370 0.00001
NM_002474.3(MYH11):c.5491G>A (p.Glu1831Lys) rs750433973 0.00001
NM_002474.3(MYH11):c.5619G>C (p.Glu1873Asp) rs762821036 0.00001
NM_002474.3(MYH11):c.5627A>G (p.Asn1876Ser) rs373369803 0.00001
NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys) rs750085824 0.00001
NM_002474.3(MYH11):c.5912G>C (p.Ser1971Thr) rs914328780 0.00001
GRCh37/hg19 16p13.11(chr16:15792748-15907589)x3
NM_001040113.2(MYH11):c.*8+1G>A rs557821702
NM_001040113.2(MYH11):c.5813C>G (p.Pro1938Arg) rs765030635
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala) rs200884440
NM_001040113.2(MYH11):c.5818C>T (p.Pro1940Ser) rs200884440
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_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) rs2506145410
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.4059C>A (p.Asp1353Glu) rs753575083
NM_002474.3(MYH11):c.4068G>A (p.Met1356Ile) rs794728663
NM_002474.3(MYH11):c.4077G>A (p.Lys1359=)
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.4114C>G (p.Gln1372Glu) rs957879903
NM_002474.3(MYH11):c.4120T>C (p.Ser1374Pro) rs2151218530
NM_002474.3(MYH11):c.4129AAG[2] (p.Lys1379del) rs748742555
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.4246G>C (p.Asp1416His)
NM_002474.3(MYH11):c.4306T>G (p.Leu1436Val) rs2506140700
NM_002474.3(MYH11):c.4334A>G (p.Asn1445Ser) rs761570770
NM_002474.3(MYH11):c.4342A>G (p.Lys1448Glu) rs2151217975
NM_002474.3(MYH11):c.4407T>A (p.Asp1469Glu) rs901607947
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) rs919030976
NM_002474.3(MYH11):c.4578+3A>T
NM_002474.3(MYH11):c.4586A>G (p.Glu1529Gly) rs2506121646
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) rs773606406
NM_002474.3(MYH11):c.4773G>C (p.Arg1591Ser) rs747923542
NM_002474.3(MYH11):c.4792-2A>G
NM_002474.3(MYH11):c.4844C>T (p.Ala1615Val) rs2151206432
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del) rs755547393
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.4954-3C>G
NM_002474.3(MYH11):c.4962G>A (p.Met1654Ile)
NM_002474.3(MYH11):c.4963_4965del (p.Lys1655del)
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.5083-17_5083-10del rs2040341419
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.5102G>A (p.Arg1701Lys) rs753777214
NM_002474.3(MYH11):c.5107C>T (p.Arg1703Cys) rs201108170
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.Glu1748_Gln1749insLeuGluGluGlu) rs777249764
NM_002474.3(MYH11):c.5225A>G (p.Glu1742Gly) rs747864632
NM_002474.3(MYH11):c.5230_5231delinsCT (p.Glu1744Leu) rs2506094864
NM_002474.3(MYH11):c.5258A>G (p.Glu1753Gly)
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) rs375743675
NM_002474.3(MYH11):c.5353A>C (p.Ser1785Arg)
NM_002474.3(MYH11):c.5364G>A (p.Gln1788=) rs1064797209
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) rs2040207703
NM_002474.3(MYH11):c.5411T>C (p.Met1804Thr) rs1085307503
NM_002474.3(MYH11):c.5471C>T (p.Ala1824Val) rs1596704264
NM_002474.3(MYH11):c.5477T>G (p.Leu1826Arg)
NM_002474.3(MYH11):c.5545A>G (p.Lys1849Glu) rs2151192751
NM_002474.3(MYH11):c.5562C>G (p.Ile1854Met) rs371591343
NM_002474.3(MYH11):c.5573T>G (p.Val1858Gly) rs794728670
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.5786+7A>G rs2151191747
NM_002474.3(MYH11):c.5787-4733CT[3] rs747642850
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu) rs764285909
NM_002474.3(MYH11):c.5799G>C (p.Glu1933Asp) rs746791674
NM_002474.3(MYH11):c.5809G>A (p.Val1937Ile)
NM_002474.3(MYH11):c.5823G>T (p.Arg1941Ser)
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.956C>G (p.Thr319Arg) rs141262029
Single allele

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