ClinVar Miner

List of variants in gene combination MYH11, NDE1 studied for Thoracic aortic aneurysm and aortic dissection

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Total variants: 171
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HGVS dbSNP
NM_001040113.1(MYH11):c.5808-9_5808-8delCT rs747642850
NM_001040113.2(MYH11):c.5813C>A (p.Pro1938His) rs765030635
NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu) rs111588143
NM_001040114.1(MYH11):c.3880-171dupT rs886051749
NM_002474.3(MYH11):c.*228T>C rs558010405
NM_002474.3(MYH11):c.*37C>A rs182768107
NM_002474.3(MYH11):c.*389C>G rs886051734
NM_002474.3(MYH11):c.*420C>G rs12932063
NM_002474.3(MYH11):c.*476_*477CA[1] rs768695681
NM_002474.3(MYH11):c.*519T>C rs886051732
NM_002474.3(MYH11):c.*544G>A rs116721094
NM_002474.3(MYH11):c.*577A>G rs886051731
NM_002474.3(MYH11):c.*5C>G rs1875184
NM_002474.3(MYH11):c.*61_*65del rs5815842
NM_002474.3(MYH11):c.*641C>A rs886051730
NM_002474.3(MYH11):c.*662G>T rs573168314
NM_002474.3(MYH11):c.*764G>A rs886051728
NM_002474.3(MYH11):c.*804C>T rs886051727
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494
NM_002474.3(MYH11):c.3858+507A>G rs140519946
NM_002474.3(MYH11):c.3858+567A>G rs886051757
NM_002474.3(MYH11):c.3858+616T>C rs886051756
NM_002474.3(MYH11):c.3858+789A>C rs147741620
NM_002474.3(MYH11):c.3858+807A>G rs554671949
NM_002474.3(MYH11):c.3858+813T>C rs113405225
NM_002474.3(MYH11):c.3858+874G>A rs73519694
NM_002474.3(MYH11):c.3859-122G>C rs12927605
NM_002474.3(MYH11):c.3859-156T>G rs565400287
NM_002474.3(MYH11):c.3859-157_3859-156insG rs1555553475
NM_002474.3(MYH11):c.3859-158G>T rs79015533
NM_002474.3(MYH11):c.3859-170GT[8] rs34909724
NM_002474.3(MYH11):c.3859-172T>G rs760024
NM_002474.3(MYH11):c.3859-173T>C rs886051751
NM_002474.3(MYH11):c.3859-202G>A rs149894916
NM_002474.3(MYH11):c.3859-206C>T rs760023
NM_002474.3(MYH11):c.3859-414T>C rs886051752
NM_002474.3(MYH11):c.3859-479C>T rs74009414
NM_002474.3(MYH11):c.3859-558T>C rs16967500
NM_002474.3(MYH11):c.3859-648C>T rs11557090
NM_002474.3(MYH11):c.3859-830T>C rs564847648
NM_002474.3(MYH11):c.3859-922G>T rs886051754
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.3891C>T (p.Asn1297=) rs541280738
NM_002474.3(MYH11):c.3897C>A (p.Ala1299=) rs190546350
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.3(MYH11):c.3963+44T>C rs770305005
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907
NM_002474.3(MYH11):c.4015C>A (p.Arg1339Ser) rs754951425
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) rs374271463
NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val) rs886051746
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) rs370519992
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281
NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val) rs147127121
NM_002474.3(MYH11):c.4116+106dup rs886051743
NM_002474.3(MYH11):c.4116+110C>T rs558625464
NM_002474.3(MYH11):c.4116+12G>A rs193005461
NM_002474.3(MYH11):c.4116+29A>G rs138543179
NM_002474.3(MYH11):c.4116+52G>A rs886051745
NM_002474.3(MYH11):c.4117-101C>A rs886051742
NM_002474.3(MYH11):c.4117-44C>T rs11130
NM_002474.3(MYH11):c.4117-6T>G rs370252949
NM_002474.3(MYH11):c.4117-80G>C rs7196012
NM_002474.3(MYH11):c.4123G>A (p.Asp1375Asn) rs143467011
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) rs760611400
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511
NM_002474.3(MYH11):c.4293C>T (p.Asp1431=) rs143588920
NM_002474.3(MYH11):c.4303G>A (p.Asp1435Asn) rs794728668
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln) rs775809843
NM_002474.3(MYH11):c.4355A>G (p.Lys1452Arg) rs1567699253
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337
NM_002474.3(MYH11):c.4420G>A (p.Ala1474Thr) rs886051741
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378
NM_002474.3(MYH11):c.4578+2dup rs794728677
NM_002474.3(MYH11):c.4578+3A>G rs143288748
NM_002474.3(MYH11):c.4579-13G>A rs181115969
NM_002474.3(MYH11):c.4579-5G>A rs759760029
NM_002474.3(MYH11):c.4587G>A (p.Glu1529=) rs1567695324
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.4659C>T (p.Asp1553=) rs141031021
NM_002474.3(MYH11):c.4663C>G (p.Leu1555Val) rs202231621
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) rs369751362
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) rs794728680
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119
NM_002474.3(MYH11):c.4773G>A (p.Arg1591=) rs747923542
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+13G>A rs374628714
NM_002474.3(MYH11):c.4791+4C>T rs142108062
NM_002474.3(MYH11):c.4797C>T (p.His1599=) rs764996278
NM_002474.3(MYH11):c.4808C>T (p.Thr1603Met) rs376105806
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.3(MYH11):c.4906G>C (p.Ala1636Pro) rs376331652
NM_002474.3(MYH11):c.4920G>A (p.Arg1640=) rs199638486
NM_002474.3(MYH11):c.4938G>A (p.Gln1646=) rs886051740
NM_002474.3(MYH11):c.4953G>C (p.Gln1651His) rs756832190
NM_002474.3(MYH11):c.4993C>T (p.Arg1665Cys) rs768569707
NM_002474.3(MYH11):c.5052C>T (p.Ser1684=) rs760908992
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.5120A>G (p.Asp1707Gly) rs1567691518
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.3(MYH11):c.5172-11C>A rs779166026
NM_002474.3(MYH11):c.5172-13G>A rs373378619
NM_002474.3(MYH11):c.5172-14C>T rs34839877
NM_002474.3(MYH11):c.5172-5C>T rs574893374
NM_002474.3(MYH11):c.5187C>T (p.Asp1729=) rs145101141
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849
NM_002474.3(MYH11):c.5238G>A (p.Glu1746=) rs1567689895
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817
NM_002474.3(MYH11):c.5248G>A (p.Gly1750Ser) rs749462800
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.5296-11C>T rs780765461
NM_002474.3(MYH11):c.5296-4C>T rs183176702
NM_002474.3(MYH11):c.5299G>A (p.Glu1767Lys) rs377663370
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.5353A>T (p.Ser1785Cys) rs772663756
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) rs145857508
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744
NM_002474.3(MYH11):c.5453C>T (p.Ala1818Val) rs771343446
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163
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+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.5586C>G (p.Arg1862=) rs542765381
NM_002474.3(MYH11):c.5595C>T (p.Ala1865=) rs760286479
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys) rs148743922
NM_002474.3(MYH11):c.5607G>A (p.Lys1869=) rs372546520
NM_002474.3(MYH11):c.5614G>A (p.Ala1872Thr) rs1355377006
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) rs138206921
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.5713C>T (p.Arg1905Trp) rs749422717
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) rs138168272
NM_002474.3(MYH11):c.5761G>A (p.Val1921Met) rs886051737
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118
NM_002474.3(MYH11):c.5774A>G (p.Lys1925Arg) rs886051736
NM_002474.3(MYH11):c.5786+11C>T rs374454501
NM_002474.3(MYH11):c.5787-4707C>A rs111588143
NM_002474.3(MYH11):c.5787-4707C>G rs111588143
NM_002474.3(MYH11):c.5787-4714dup rs747392139
NM_002474.3(MYH11):c.5787-4727C>T rs745371874
NM_002474.3(MYH11):c.5787-4733CT[2] rs747642850
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002474.3(MYH11):c.5886C>T (p.Asp1962=) rs140789717

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