ClinVar Miner

List of variants studied for Aortic aneurysm, familial thoracic 4 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.1743T>C (p.Ala581=) rs2272554 0.49695
NM_002474.3(MYH11):c.4117-44C>T rs11130 0.47916
NM_002474.3(MYH11):c.1249-11G>C rs2280764 0.46907
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_002474.3(MYH11):c.2472C>T (p.Ala824=) rs1050113 0.26411
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494 0.21955
NM_002474.3(MYH11):c.3859-158G>T rs79015533 0.11286
NM_002474.3(MYH11):c.417C>T (p.Val139=) rs1050111 0.10480
NM_002474.3(MYH11):c.3859-206C>T rs760023 0.09015
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907 0.08987
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
NM_002474.3(MYH11):c.3859-172T>G rs760024 0.08447
NM_002474.3(MYH11):c.3859-558T>C rs16967500 0.08018
NM_002474.3(MYH11):c.3859-479C>T rs74009414 0.08006
NM_002474.3(MYH11):c.3859-648C>T rs11557090 0.07983
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_002474.3(MYH11):c.2208C>T (p.Ile736=) rs12931799 0.07252
NM_002474.3(MYH11):c.3858+874G>A rs73519694 0.06691
NM_002474.3(MYH11):c.2079C>T (p.Phe693=) rs34287137 0.06287
NM_002474.3(MYH11):c.2061C>T (p.Ser687=) rs880071 0.06148
NM_002474.3(MYH11):c.135C>T (p.Phe45=) rs28570191 0.04299
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_002474.3(MYH11):c.*420C>G rs12932063 0.03681
NM_002474.3(MYH11):c.5172-14C>T rs34839877 0.03595
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_002474.3(MYH11):c.*5C>G rs1875184 0.02929
NM_002474.3(MYH11):c.*544G>A rs116721094 0.01717
NM_002474.3(MYH11):c.3858+813T>C rs113405225 0.01698
NM_002474.3(MYH11):c.-88G>A rs79612144 0.01618
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr) rs34263860 0.01232
NM_002474.3(MYH11):c.2412-9C>A rs148682361 0.01132
NM_002474.3(MYH11):c.387A>G (p.Lys129=) rs78754138 0.01024
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_002474.3(MYH11):c.4116+12G>A rs193005461 0.00847
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_002474.3(MYH11):c.4791+4C>T rs142108062 0.00664
NM_002474.3(MYH11):c.*631C>T rs112926446 0.00650
NM_002474.3(MYH11):c.5296-4C>T rs183176702 0.00636
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_002474.3(MYH11):c.1419G>A (p.Gln473=) rs61734198 0.00535
NM_002474.3(MYH11):c.5504+8G>C rs148691719 0.00511
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_002474.3(MYH11):c.5757C>T (p.Arg1919=) rs138168272 0.00312
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_002474.3(MYH11):c.3859-768T>C rs140080894 0.00221
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
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.739C>T (p.Arg247Cys) rs150759461 0.00174
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_002474.3(MYH11):c.4578+3A>G rs143288748 0.00138
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940 0.00116
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750 0.00106
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182 0.00079
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_002474.3(MYH11):c.*228T>C rs558010405 0.00061
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_002474.3(MYH11):c.4116+84G>A rs527245682 0.00061
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) rs111936548 0.00052
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_002474.3(MYH11):c.*37C>A rs182768107 0.00041
NM_002474.3(MYH11):c.5296-10T>C rs111858392 0.00039
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_002474.3(MYH11):c.-67C>T rs370680984 0.00036
NM_002474.3(MYH11):c.471C>T (p.Ile157=) rs140267000 0.00036
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_002474.3(MYH11):c.5786+11C>T rs374454501 0.00034
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu) rs35035518 0.00031
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_002474.3(MYH11):c.3858+645T>G rs564739542 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_002474.3(MYH11):c.*600G>T rs370591283 0.00025
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_002474.3(MYH11):c.4579-13G>A rs181115969 0.00022
NM_002474.3(MYH11):c.1078G>A (p.Val360Ile) rs111677442 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_002474.3(MYH11):c.1034-12T>G rs184847335 0.00020
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp) rs143402648 0.00020
NM_002474.3(MYH11):c.*304C>T rs772019498 0.00019
NM_002474.3(MYH11):c.*610G>A rs189033300 0.00019
NM_002474.3(MYH11):c.5172-13G>A rs373378619 0.00019
NM_002474.3(MYH11):c.1212G>C (p.Gly404=) rs201198815 0.00017
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00017
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=) rs370854451 0.00016
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318 0.00016
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_002474.3(MYH11):c.1017C>T (p.Ser339=) rs112161189 0.00014
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_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744 0.00010
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825 0.00010
NM_002474.3(MYH11):c.3293+6G>A rs370658839 0.00009
NM_002474.3(MYH11):c.3859-830T>C rs564847648 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.4953+12T>C rs201595239 0.00008
NM_002474.3(MYH11):c.1056G>A (p.Ser352=) rs201256839 0.00007
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_002474.3(MYH11):c.5886C>T (p.Asp1962=) rs140789717 0.00007
NM_002474.3(MYH11):c.3603C>G (p.His1201Gln) rs199800922 0.00006
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_002474.3(MYH11):c.4579-14C>T rs377410503 0.00006
NM_002474.3(MYH11):c.5614-7G>A rs202120792 0.00006
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711 0.00006
NM_002474.3(MYH11):c.5330G>A (p.Arg1777His) rs201754049 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_002474.3(MYH11):c.708C>T (p.Asn236=) rs768328532 0.00005
NM_002474.3(MYH11):c.*607G>A rs1308010477 0.00004
NM_002474.3(MYH11):c.1863C>T (p.Asp621=) rs200158182 0.00004
NM_002474.3(MYH11):c.2860-14C>G rs371582357 0.00004
NM_002474.3(MYH11):c.301G>A (p.Val101Met) rs375159635 0.00004
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=) rs374486989 0.00004
NM_002474.3(MYH11):c.1402-14C>T rs375973110 0.00003
NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr) rs187172581 0.00003
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) rs145857508 0.00003
NM_002474.3(MYH11):c.546C>T (p.Ala182=) rs113577450 0.00003
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) rs79129097 0.00003
NM_002474.3(MYH11):c.758C>T (p.Thr253Met) rs745787304 0.00003
NM_002474.3(MYH11):c.1037T>C (p.Ile346Thr) rs794728675 0.00002
NM_002474.3(MYH11):c.1401+10G>A rs375209947 0.00002
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) rs563865467 0.00002
NM_002474.3(MYH11):c.2010C>T (p.Asn670=) rs774336703 0.00002
NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val) rs534384552 0.00002
NM_002474.3(MYH11):c.3340C>T (p.Arg1114Trp) rs202004234 0.00002
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) rs374271463 0.00002
NM_002474.3(MYH11):c.5774A>G (p.Lys1925Arg) rs886051736 0.00002
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=) rs764375446 0.00002
NM_002474.3(MYH11):c.988G>A (p.Val330Met) rs368938309 0.00002
NM_002474.3(MYH11):c.*374C>G rs1245104107 0.00001
NM_002474.3(MYH11):c.*389C>G rs886051734 0.00001
NM_002474.3(MYH11):c.*61A>C rs1555546983 0.00001
NM_002474.3(MYH11):c.*804C>T rs886051727 0.00001
NM_002474.3(MYH11):c.1065G>C (p.Gln355His) rs2041923210 0.00001
NM_002474.3(MYH11):c.1356T>A (p.Ala452=) rs778073237 0.00001
NM_002474.3(MYH11):c.1574C>T (p.Pro525Leu) rs750288554 0.00001
NM_002474.3(MYH11):c.1576-4A>G rs189193825 0.00001
NM_002474.3(MYH11):c.2997+10G>T rs886051760 0.00001
NM_002474.3(MYH11):c.3824G>A (p.Arg1275Gln) rs267606901 0.00001
NM_002474.3(MYH11):c.3831G>A (p.Glu1277=) rs752821481 0.00001
NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val) rs886051746 0.00001
NM_002474.3(MYH11):c.465C>T (p.Tyr155=) rs145810355 0.00001
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys) rs372598970 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.4808C>T (p.Thr1603Met) rs376105806 0.00001
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464 0.00001
NM_002474.3(MYH11):c.4938G>A (p.Gln1646=) rs886051740 0.00001
NM_002474.3(MYH11):c.4953G>C (p.Gln1651His) rs756832190 0.00001
NM_002474.3(MYH11):c.5172-5C>T rs574893374 0.00001
NM_002474.3(MYH11):c.540T>C (p.Ser180=) rs182700462 0.00001
NM_002474.3(MYH11):c.5627A>G (p.Asn1876Ser) rs373369803 0.00001
NM_002474.3(MYH11):c.720A>T (p.Ser240=) rs143160789 0.00001
NM_002474.3(MYH11):c.*438T>C rs2039296516
NM_002474.3(MYH11):c.*519T>C rs886051732
NM_002474.3(MYH11):c.*577A>G rs886051731
NM_002474.3(MYH11):c.*609C>T rs1567667341
NM_002474.3(MYH11):c.*662G>T rs573168314
NM_002474.3(MYH11):c.*764G>A rs886051728
NM_002474.3(MYH11):c.-87C>T rs2044493735
NM_002474.3(MYH11):c.1220T>C (p.Val407Ala) rs886038993
NM_002474.3(MYH11):c.1341C>A (p.Thr447=) rs200660016
NM_002474.3(MYH11):c.1571G>A (p.Arg524Gln) rs886051764
NM_002474.3(MYH11):c.2041C>T (p.Pro681Ser) rs886051763
NM_002474.3(MYH11):c.2481C>T (p.Leu827=) rs886051762
NM_002474.3(MYH11):c.2703G>T (p.Glu901Asp) rs886051761
NM_002474.3(MYH11):c.2741C>T (p.Ala914Val) rs142128375
NM_002474.3(MYH11):c.2841G>T (p.Lys947Asn) rs878854164
NM_002474.3(MYH11):c.3255G>A (p.Leu1085=) rs768298662
NM_002474.3(MYH11):c.3274C>G (p.Leu1092Val) rs945042608
NM_002474.3(MYH11):c.3651+5T>G rs794727439
NM_002474.3(MYH11):c.3669C>A (p.Asp1223Glu) rs111940956
NM_002474.3(MYH11):c.3821C>T (p.Ala1274Val) rs1060500723
NM_002474.3(MYH11):c.4116+29A>G rs138543179
NM_002474.3(MYH11):c.4420G>A (p.Ala1474Thr) rs886051741
NM_002474.3(MYH11):c.4579-5G>A rs759760029
NM_002474.3(MYH11):c.4663C>G (p.Leu1555Val) rs202231621
NM_002474.3(MYH11):c.4791+3G>A rs934815328
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.4873G>C (p.Asp1625His) rs2040394548
NM_002474.3(MYH11):c.5010G>C (p.Glu1670Asp) rs2040361516
NM_002474.3(MYH11):c.5155A>C (p.Ser1719Arg) rs2040335841
NM_002474.3(MYH11):c.5296-6C>T rs886051739
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.5427G>C (p.Lys1809Asn) rs886051738
NM_002474.3(MYH11):c.5485C>A (p.Gln1829Lys) rs1005977032
NM_002474.3(MYH11):c.5761G>A (p.Val1921Met) rs886051737
NM_002474.3(MYH11):c.5787-13T>C rs2039326531

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