ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
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_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
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.5393G>A (p.Arg1798Gln) rs148938946 0.00025
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.4994G>T (p.Arg1665Leu) rs144813247 0.00013
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.4127C>T (p.Ser1376Leu) rs553877450 0.00008
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) rs145074004 0.00008
NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val) rs147127121 0.00006
NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) rs139418145 0.00006
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln) rs775809843 0.00005
NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr) rs373815046 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 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.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_002474.3(MYH11):c.4372G>A (p.Ala1458Thr) rs775154820 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_017668.3(NDE1):c.948-3357C>T rs376779423 0.00003
NM_017668.3(NDE1):c.980C>T (p.Ser327Leu) rs794728668 0.00003
NM_002474.3(MYH11):c.4007C>T (p.Thr1336Met) rs771330136 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.4123G>A (p.Asp1375Asn) rs143467011 0.00002
NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys) rs748356212 0.00002
NM_002474.3(MYH11):c.5128A>G (p.Lys1710Glu) rs566447086 0.00002
NM_002474.3(MYH11):c.5161C>A (p.Leu1721Met) rs571517980 0.00002
NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln) rs751495086 0.00002
NM_002474.3(MYH11):c.5614G>A (p.Ala1872Thr) rs1355377006 0.00002
NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln) rs1443593366 0.00002
NM_002474.3(MYH11):c.5789G>A (p.Arg1930Gln) rs769356338 0.00002
NM_017668.3(NDE1):c.948-6840G>C rs370866058 0.00002
NM_002474.3(MYH11):c.3892G>A (p.Glu1298Lys) rs780157741 0.00001
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737 0.00001
NM_002474.3(MYH11):c.4000G>C (p.Val1334Leu) rs139377348 0.00001
NM_002474.3(MYH11):c.4024G>A (p.Glu1342Lys) rs755408359 0.00001
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys) rs141184241 0.00001
NM_002474.3(MYH11):c.4094A>G (p.His1365Arg) rs138730904 0.00001
NM_002474.3(MYH11):c.4135A>C (p.Lys1379Gln) rs753312858 0.00001
NM_002474.3(MYH11):c.4200G>T (p.Glu1400Asp) rs754997732 0.00001
NM_002474.3(MYH11):c.4225G>A (p.Glu1409Lys) rs760096354 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.4510C>T (p.Arg1504Trp) rs144823441 0.00001
NM_002474.3(MYH11):c.4511G>A (p.Arg1504Gln) rs769614526 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.4685A>G (p.Lys1562Arg) rs1019265305 0.00001
NM_002474.3(MYH11):c.4728C>G (p.Phe1576Leu) rs765435868 0.00001
NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys) rs761965886 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.4904C>G (p.Ser1635Cys) rs772007259 0.00001
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr) rs200410021 0.00001
NM_002474.3(MYH11):c.5122C>G (p.Leu1708Val) rs1353911032 0.00001
NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln) rs148433586 0.00001
NM_002474.3(MYH11):c.5255T>C (p.Met1752Thr) rs999924172 0.00001
NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu) rs901502893 0.00001
NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser) rs1041344233 0.00001
NM_002474.3(MYH11):c.5360G>A (p.Arg1787Gln) rs759000207 0.00001
NM_002474.3(MYH11):c.5374C>T (p.Arg1792Trp) rs1364355866 0.00001
NM_002474.3(MYH11):c.5404C>T (p.His1802Tyr) rs1485890422 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.5500G>A (p.Ala1834Thr) rs759734157 0.00001
NM_002474.3(MYH11):c.5627A>G (p.Asn1876Ser) rs373369803 0.00001
NM_002474.3(MYH11):c.5684G>A (p.Arg1895His) rs375148396 0.00001
NM_002474.3(MYH11):c.5852C>T (p.Ala1951Val) rs769211342 0.00001
NM_017668.3(NDE1):c.965G>A (p.Arg322His) rs766841864 0.00001
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu) rs151058774
NM_002474.3(MYH11):c.3874G>T (p.Val1292Phe)
NM_002474.3(MYH11):c.3914A>C (p.Lys1305Thr)
NM_002474.3(MYH11):c.3928G>T (p.Val1310Leu) rs7196804
NM_002474.3(MYH11):c.3932C>A (p.Ala1311Glu)
NM_002474.3(MYH11):c.3949C>G (p.Leu1317Val)
NM_002474.3(MYH11):c.3959C>G (p.Thr1320Ser) rs2040673806
NM_002474.3(MYH11):c.3968T>C (p.Leu1323Pro)
NM_002474.3(MYH11):c.3985C>T (p.Arg1329Trp)
NM_002474.3(MYH11):c.4015C>A (p.Arg1339Ser) rs754951425
NM_002474.3(MYH11):c.4021C>A (p.Leu1341Met)
NM_002474.3(MYH11):c.4058A>T (p.Asp1353Val)
NM_002474.3(MYH11):c.4068G>A (p.Met1356Ile) rs794728663
NM_002474.3(MYH11):c.4070A>C (p.Glu1357Ala)
NM_002474.3(MYH11):c.4091G>A (p.Arg1364His)
NM_002474.3(MYH11):c.4106T>G (p.Leu1369Arg) rs2040657857
NM_002474.3(MYH11):c.4150G>A (p.Ala1384Thr) rs775802674
NM_002474.3(MYH11):c.4238C>A (p.Ala1413Asp)
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr) rs794728676
NM_002474.3(MYH11):c.4241C>A (p.Ala1414Asp)
NM_002474.3(MYH11):c.4243T>G (p.Tyr1415Asp)
NM_002474.3(MYH11):c.4244A>G (p.Tyr1415Cys)
NM_002474.3(MYH11):c.4253T>A (p.Leu1418Gln) rs2040633481
NM_002474.3(MYH11):c.4262C>T (p.Thr1421Ile) rs146817436
NM_002474.3(MYH11):c.4288G>A (p.Asp1430Asn)
NM_002474.3(MYH11):c.4301T>C (p.Val1434Ala)
NM_002474.3(MYH11):c.4306T>G (p.Leu1436Val)
NM_002474.3(MYH11):c.4367T>C (p.Leu1456Ser)
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln) rs749181134
NM_002474.3(MYH11):c.4433C>G (p.Ala1478Gly) rs886039156
NM_002474.3(MYH11):c.4440G>C (p.Glu1480Asp)
NM_002474.3(MYH11):c.4471G>A (p.Ala1491Thr)
NM_002474.3(MYH11):c.4472C>T (p.Ala1491Val)
NM_002474.3(MYH11):c.4484C>T (p.Ala1495Val) rs907051668
NM_002474.3(MYH11):c.4511G>T (p.Arg1504Leu)
NM_002474.3(MYH11):c.4517A>G (p.Asn1506Ser) rs1060500727
NM_002474.3(MYH11):c.4519A>C (p.Lys1507Gln)
NM_002474.3(MYH11):c.4535A>T (p.Glu1512Val)
NM_002474.3(MYH11):c.4568T>C (p.Val1523Ala)
NM_002474.3(MYH11):c.4588C>A (p.Leu1530Met)
NM_002474.3(MYH11):c.4598C>G (p.Ser1533Cys) rs748529935
NM_002474.3(MYH11):c.4601A>G (p.Lys1534Arg)
NM_002474.3(MYH11):c.4618C>G (p.Gln1540Glu)
NM_002474.3(MYH11):c.4630A>T (p.Met1544Leu)
NM_002474.3(MYH11):c.4657G>A (p.Asp1553Asn) rs2151208733
NM_002474.3(MYH11):c.4684A>G (p.Lys1562Glu)
NM_002474.3(MYH11):c.4725G>T (p.Gln1575His)
NM_002474.3(MYH11):c.4766A>G (p.Glu1589Gly)
NM_002474.3(MYH11):c.4800G>T (p.Glu1600Asp) rs1328056044
NM_002474.3(MYH11):c.4801T>G (p.Tyr1601Asp)
NM_002474.3(MYH11):c.4811A>T (p.Glu1604Val)
NM_002474.3(MYH11):c.4819G>T (p.Asp1607Tyr)
NM_002474.3(MYH11):c.4862A>T (p.Lys1621Met)
NM_002474.3(MYH11):c.4873G>A (p.Asp1625Asn)
NM_002474.3(MYH11):c.4948C>A (p.Leu1650Met)
NM_002474.3(MYH11):c.4949T>A (p.Leu1650Gln)
NM_002474.3(MYH11):c.4968C>G (p.Asp1656Glu)
NM_002474.3(MYH11):c.4991C>G (p.Ala1664Gly)
NM_002474.3(MYH11):c.4994G>A (p.Arg1665His) rs144813247
NM_002474.3(MYH11):c.5030A>C (p.Glu1677Ala)
NM_002474.3(MYH11):c.5093C>T (p.Ala1698Val) rs779639232
NM_002474.3(MYH11):c.5102G>C (p.Arg1701Thr)
NM_002474.3(MYH11):c.5107C>T (p.Arg1703Cys) rs201108170
NM_002474.3(MYH11):c.5149C>A (p.Leu1717Met)
NM_002474.3(MYH11):c.5198G>A (p.Arg1733His)
NM_002474.3(MYH11):c.5200C>G (p.Leu1734Val) rs2040284764
NM_002474.3(MYH11):c.5219A>G (p.Gln1740Arg)
NM_002474.3(MYH11):c.5230G>A (p.Glu1744Lys)
NM_002474.3(MYH11):c.5275G>T (p.Val1759Phe) rs138059405
NM_002474.3(MYH11):c.5279G>A (p.Arg1760His)
NM_002474.3(MYH11):c.5299G>C (p.Glu1767Gln)
NM_002474.3(MYH11):c.5308A>C (p.Ser1770Arg)
NM_002474.3(MYH11):c.5314G>A (p.Glu1772Lys)
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) rs201960644
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.5398A>G (p.Lys1800Glu)
NM_002474.3(MYH11):c.5401C>T (p.Leu1801Phe)
NM_002474.3(MYH11):c.5412G>A (p.Met1804Ile) rs748806263
NM_002474.3(MYH11):c.5417G>C (p.Gly1806Ala)
NM_002474.3(MYH11):c.5435T>C (p.Phe1812Ser)
NM_002474.3(MYH11):c.5444_5448dup (p.Ala1817fs)
NM_002474.3(MYH11):c.5447T>C (p.Ile1816Thr)
NM_002474.3(MYH11):c.5468T>C (p.Ile1823Thr) rs769337030
NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile) rs185904370
NM_002474.3(MYH11):c.5491G>C (p.Glu1831Gln) rs750433973
NM_002474.3(MYH11):c.5579A>G (p.Asp1860Gly)
NM_002474.3(MYH11):c.5597A>G (p.Glu1866Gly)
NM_002474.3(MYH11):c.5614G>C (p.Ala1872Pro)
NM_002474.3(MYH11):c.5732C>A (p.Thr1911Lys) rs748516947
NM_002474.3(MYH11):c.5734G>C (p.Glu1912Gln)
NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg) rs760586766
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu) rs764285909
NM_002474.3(MYH11):c.5796C>A (p.Asn1932Lys)
NM_002474.3(MYH11):c.5809G>C (p.Val1937Leu)
NM_002474.3(MYH11):c.5833C>T (p.Arg1945Cys) rs751862398
NM_002474.3(MYH11):c.5834G>A (p.Arg1945His)
NM_002474.3(MYH11):c.5836A>G (p.Arg1946Gly)
NM_002474.3(MYH11):c.5847A>C (p.Glu1949Asp)
NM_002474.3(MYH11):c.5857G>A (p.Gly1953Ser)
NM_002474.3(MYH11):c.5879C>A (p.Thr1960Asn)
NM_017668.3(NDE1):c.948-3135C>T rs759760029

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