ClinVar Miner

List of variants in gene combination MYH11, NDE1 studied for Aortic aneurysm, familial thoracic 4

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Total variants: 185
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HGVS dbSNP
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510
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.3891C>T (p.Asn1297=) rs541280738
NM_002474.3(MYH11):c.3894G>C (p.Glu1298Asp)
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737
NM_002474.3(MYH11):c.3927C>T (p.Asp1309=) rs150712107
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.3930G>A (p.Val1310=) rs369184213
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) rs185720909
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.3(MYH11):c.3963+6T>C rs373371913
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906
NM_002474.3(MYH11):c.3999C>T (p.Asn1333=) rs768465413
NM_002474.3(MYH11):c.4008G>A (p.Thr1336=) rs749476388
NM_002474.3(MYH11):c.4015C>T (p.Arg1339Cys) rs754951425
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) rs374271463
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln) rs150883363
NM_002474.3(MYH11):c.4035G>A (p.Arg1345=) rs1060504019
NM_002474.3(MYH11):c.4060G>A (p.Glu1354Lys)
NM_002474.3(MYH11):c.4083C>T (p.Asn1361=) rs769899465
NM_002474.3(MYH11):c.4089G>T (p.Glu1363Asp)
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281
NM_002474.3(MYH11):c.4110C>T (p.Asn1370=) rs756833213
NM_002474.3(MYH11):c.4116+11del rs543763112
NM_002474.3(MYH11):c.4117-6T>G rs370252949
NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu)
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=) rs113302393
NM_002474.3(MYH11):c.4235C>T (p.Ala1412Val)
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511
NM_002474.3(MYH11):c.4255G>C (p.Glu1419Gln) rs567729923
NM_002474.3(MYH11):c.4281G>A (p.Gln1427=) rs1060504021
NM_002474.3(MYH11):c.4310A>G (p.Asp1437Gly)
NM_002474.3(MYH11):c.4327G>A (p.Val1443Met) rs141262029
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln) rs775809843
NM_002474.3(MYH11):c.4365+10G>A rs142707175
NM_002474.3(MYH11):c.4365+9C>T rs571613839
NM_002474.3(MYH11):c.4366-4G>A rs760252350
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln) rs749181134
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180
NM_002474.3(MYH11):c.4438G>C (p.Glu1480Gln) rs864622710
NM_002474.3(MYH11):c.4460C>G (p.Ser1487Cys)
NM_002474.3(MYH11):c.4480G>A (p.Glu1494Lys)
NM_002474.3(MYH11):c.4484C>T (p.Ala1495Val) rs907051668
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940
NM_002474.3(MYH11):c.4517A>G (p.Asn1506Ser) rs1060500727
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378
NM_002474.3(MYH11):c.4533C>T (p.Ala1511=) rs181548582
NM_002474.3(MYH11):c.4578+1G>A rs397514037
NM_002474.3(MYH11):c.4578+1G>C
NM_002474.3(MYH11):c.4578+1G>T rs397514037
NM_002474.3(MYH11):c.4578+3A>G rs143288748
NM_002474.3(MYH11):c.4579-14C>T rs377410503
NM_002474.3(MYH11):c.4579-5G>A rs759760029
NM_002474.3(MYH11):c.4579-6C>T rs200223639
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp) rs143402648
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837
NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr)
NM_002474.3(MYH11):c.4637C>T (p.Thr1546Met)
NM_002474.3(MYH11):c.4659C>T (p.Asp1553=) rs141031021
NM_002474.3(MYH11):c.4661_4681dup (p.Glu1554_Asp1560dup) rs1555551958
NM_002474.3(MYH11):c.4662G>A (p.Glu1554=) rs747434041
NM_002474.3(MYH11):c.4663C>T (p.Leu1555=) rs202231621
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563
NM_002474.3(MYH11):c.4674G>A (p.Thr1558=) rs778499852
NM_002474.3(MYH11):c.4680C>T (p.Asp1560=) rs142613263
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) rs145074004
NM_002474.3(MYH11):c.4728C>G (p.Phe1576Leu) rs765435868
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) rs369751362
NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp) rs777170587
NM_002474.3(MYH11):c.4748G>A (p.Arg1583Gln) rs775908168
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) rs794728680
NM_002474.3(MYH11):c.4761T>C (p.Asn1587=) rs376132003
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) rs534983279
NM_002474.3(MYH11):c.4791+4C>T rs142108062
NM_002474.3(MYH11):c.4791+5G>A rs376779423
NM_002474.3(MYH11):c.4791+9T>C rs764276381
NM_002474.3(MYH11):c.4792-7C>T rs375652279
NM_002474.3(MYH11):c.4815G>A (p.Leu1605=) rs1401043343
NM_002474.3(MYH11):c.4835G>A (p.Arg1612His)
NM_002474.3(MYH11):c.4848T>C (p.Ala1616=) rs549933627
NM_002474.3(MYH11):c.4855_4857AAG[2] (p.Lys1621del) rs755547393
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.3(MYH11):c.4884C>T (p.Asp1628=) rs780786328
NM_002474.3(MYH11):c.4888G>C (p.Glu1630Gln) rs1555551728
NM_002474.3(MYH11):c.4912A>G (p.Lys1638Glu) rs1060500728
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys) rs369409348
NM_002474.3(MYH11):c.4974A>G (p.Gln1658=) rs762733113
NM_002474.3(MYH11):c.4988A>T (p.Asp1663Val) rs538137003
NM_002474.3(MYH11):c.4993C>T (p.Arg1665Cys) rs768569707
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) rs144813247
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) rs1567692384
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) rs760908992
NM_002474.3(MYH11):c.5055G>C (p.Leu1685Phe)
NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr) rs187172581
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr) rs200410021
NM_002474.3(MYH11):c.5108G>A (p.Arg1703His) rs890856227
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu) rs756025504
NM_002474.3(MYH11):c.5171+9C>T rs780145425
NM_002474.3(MYH11):c.5172-14C>T rs34839877
NM_002474.3(MYH11):c.5172-5C>T rs574893374
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041
NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln)
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr) rs794729642
NM_002474.3(MYH11):c.5215G>A (p.Ala1739Thr) rs1029371842
NM_002474.3(MYH11):c.5222_5233TGGAGGAGGAGC[3] (p.1741_1744LEEE[3]) rs777249764
NM_002474.3(MYH11):c.5225A>G (p.Glu1742Gly) rs747864632
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817
NM_002474.3(MYH11):c.5269G>A (p.Asp1757Asn) rs752996609
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu) rs146043349
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682
NM_002474.3(MYH11):c.5284G>A (p.Ala1762Thr) rs142824472
NM_002474.3(MYH11):c.5295+10G>A rs368366419
NM_002474.3(MYH11):c.5295+9C>T rs199798923
NM_002474.3(MYH11):c.5296-10T>C rs111858392
NM_002474.3(MYH11):c.5296-3C>G rs370866058
NM_002474.3(MYH11):c.5296-4C>T rs183176702
NM_002474.3(MYH11):c.5313C>T (p.Asn1771=) rs190675029
NM_002474.3(MYH11):c.5330G>A (p.Arg1777His) rs201754049
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) rs201960644
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.5354G>C (p.Ser1785Thr)
NM_002474.3(MYH11):c.5360_5362dup (p.Arg1787dup)
NM_002474.3(MYH11):c.5365C>G (p.Gln1789Glu)
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469
NM_002474.3(MYH11):c.5371G>A (p.Glu1791Lys) rs368269107
NM_002474.3(MYH11):c.5396G>A (p.Ser1799Asn) rs776016983
NM_002474.3(MYH11):c.5396G>C (p.Ser1799Thr) rs776016983
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) rs780870767
NM_002474.3(MYH11):c.5435_5440dup (p.Phe1812_Lys1813dup) rs864309564
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163
NM_002474.3(MYH11):c.5497G>A (p.Glu1833Lys) rs1567687398
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402
NM_002474.3(MYH11):c.5504+6C>A rs371348553
NM_002474.3(MYH11):c.5504+7G>A rs529718944
NM_002474.3(MYH11):c.5504+7G>T rs529718944
NM_002474.3(MYH11):c.5504+8G>C rs148691719
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys) rs148743922
NM_002474.3(MYH11):c.5614-7G>A rs202120792
NM_002474.3(MYH11):c.5614-8C>T rs376174444
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) rs138206921
NM_002474.3(MYH11):c.5652G>A (p.Arg1884=) rs150860193
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) rs79129097
NM_002474.3(MYH11):c.5722G>A (p.Asp1908Asn) rs1176411300
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947
NM_002474.3(MYH11):c.5733G>A (p.Thr1911=) rs372173243
NM_002474.3(MYH11):c.5742C>T (p.Asn1914=) rs146391904
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) rs138168272
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) rs571504063
NM_002474.3(MYH11):c.5787-4694G>A rs373899395
NM_002474.3(MYH11):c.5787-4695C>T
NM_002474.3(MYH11):c.5787-4704A>G rs761957202
NM_002474.3(MYH11):c.5787-4705C>A rs765457680
NM_002474.3(MYH11):c.5787-4707C>A rs111588143
NM_002474.3(MYH11):c.5787-4707C>G rs111588143
NM_002474.3(MYH11):c.5787-4708C>G rs200884440
NM_002474.3(MYH11):c.5787-4714dup rs747392139
NM_002474.3(MYH11):c.5787-4733CT[2] rs747642850
NM_002474.3(MYH11):c.5787-4733CT[3] rs747642850
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr) rs764843752
NM_022844.2(MYH11):c.[4578+1G>T;5273G>A]

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