ClinVar Miner

List of variants reported as benign for Aortic aneurysm, familial thoracic 4 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 99
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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.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_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.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_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.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.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_002474.3(MYH11):c.4578+19T>C 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_002474.3(MYH11):c.4579-13G>A 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_002474.3(MYH11):c.5172-13G>A 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_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.1434C>T (p.Tyr478=) rs763773359 0.00007
NM_002474.3(MYH11):c.5614-7G>A 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.5172-5C>T rs574893374 0.00001
NM_002474.3(MYH11):c.5586C>G (p.Arg1862=) rs542765381 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.4116+11del rs543763112
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.530+20C>T rs780914854
NM_002474.3(MYH11):c.5614-19dup rs759257352

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