ClinVar Miner

List of variants reported as benign for aortic aneurysm, familial thoracic 4 by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.1743T>C (p.Ala581=) rs2272554 0.49695
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.417C>T (p.Val139=) rs1050111 0.10480
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.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_002474.3(MYH11):c.2208C>T (p.Ile736=) rs12931799 0.07252
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_017668.3(NDE1):c.948-5739G>A 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.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr) rs34263860 0.01232
NM_002474.3(MYH11):c.3651+5del rs201404398 0.01163
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_017668.3(NDE1):c.*384C>T rs193005461 0.00847
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_017668.3(NDE1):c.948-3356G>A rs142108062 0.00664
NM_017668.3(NDE1):c.948-6839G>A 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_017668.3(NDE1):c.948-7059C>G 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.2520+17A>G rs185697714 0.00383
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.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_002474.3(MYH11):c.1848C>T (p.Ala616=) rs112834652 0.00172
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_002474.3(MYH11):c.2961C>T (p.Ile987=) rs137988790 0.00155
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_002474.3(MYH11):c.346-16G>C rs74009446 0.00136
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940 0.00116
NM_002474.3(MYH11):c.57C>T (p.Asn19=) rs148464745 0.00111
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750 0.00106
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043 0.00093
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=) rs181744522 0.00080
NM_002474.3(MYH11):c.1871G>A (p.Arg624His) rs201991156 0.00068
NM_002474.3(MYH11):c.3196G>A (p.Asp1066Asn) rs200315340 0.00061
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) rs760611400 0.00057
NM_002474.3(MYH11):c.2520+8C>A rs8063833 0.00056
NM_002474.3(MYH11):c.2649G>A (p.Ser883=) rs150943863 0.00056
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
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_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu) rs35035518 0.00031
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=) rs113302393 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_002474.3(MYH11):c.1034-12T>G rs184847335 0.00020
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
NM_002474.3(MYH11):c.6G>A (p.Ala2=) rs762011909 0.00018
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00017
NM_002474.3(MYH11):c.1017C>T (p.Ser339=) rs112161189 0.00014
NM_002474.3(MYH11):c.3858+16G>C rs370164910 0.00013
NM_002474.3(MYH11):c.1576-17C>T rs181888156 0.00012
NM_002474.3(MYH11):c.2520+15C>G rs199771313 0.00010
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326 0.00008
NM_017668.3(NDE1):c.948-4052A>G rs201595239 0.00008
NM_002474.3(MYH11):c.1056G>A (p.Ser352=) rs201256839 0.00007
NM_002474.3(MYH11):c.1434C>T (p.Tyr478=) rs763773359 0.00007
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_002474.3(MYH11):c.831C>T (p.Asp277=) rs113537940 0.00004
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) rs79129097 0.00003
NM_002474.3(MYH11):c.4974A>G (p.Gln1658=) rs762733113 0.00002
NM_002474.3(MYH11):c.1968G>A (p.Leu656=) rs754494548 0.00001
NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn) rs746943696 0.00001
NM_002474.3(MYH11):c.5586C>G (p.Arg1862=) rs542765381 0.00001
NM_017668.3(NDE1):c.948-5748G>A rs574893374 0.00001
MYH11:c.503-14_503-12del rs141564071
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) rs747392139
NM_002474.3(MYH11):c.1032A>G (p.Leu344=) rs112474866
NM_002474.3(MYH11):c.2166G>A (p.Gln722=) rs548956512
NM_002474.3(MYH11):c.3293+9del
NM_002474.3(MYH11):c.3651+5T>G rs794727439
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.530+20C>T rs780914854
NM_017668.3(NDE1):c.*388del rs543763112
NM_017668.3(NDE1):c.948-9088dup rs759257352

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.