ClinVar Miner

List of variants reported as uncertain significance for Aortic aneurysm, familial thoracic 4 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.3859-158G>T rs79015533 0.11286
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
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.2005C>T (p.Arg669Cys) rs111404182 0.00079
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.5296-10T>C rs111858392 0.00039
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
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.*600G>T rs370591283 0.00025
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
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.5172-13G>A rs373378619 0.00019
NM_002474.3(MYH11):c.1212G>C (p.Gly404=) rs201198815 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.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.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.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.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.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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