ClinVar Miner

List of variants studied for Aortic aneurysm, familial thoracic 7 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 178
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275 0.99852
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358 0.94358
NM_053025.4(MYLK):c.1804+8C>T rs820355 0.91605
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993 0.88650
NM_053025.4(MYLK):c.-153C>T rs2700408 0.74210
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047 0.59203
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305 0.53400
NM_053025.4(MYLK):c.*612C>A rs9422 0.36021
NM_053025.4(MYLK):c.*1809A>G rs6438804 0.30158
NM_053025.4(MYLK):c.*406G>C rs6438805 0.24676
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392 0.24353
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) rs820463 0.21770
NM_053025.4(MYLK):c.1651+6T>A rs820329 0.17955
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507 0.03602
NM_053025.4(MYLK):c.3652+11G>A rs41271437 0.03294
NM_053025.4(MYLK):c.4620-12G>A rs41301337 0.03066
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941 0.02481
NM_053025.4(MYLK):c.*419C>T rs115932105 0.02102
NM_053025.4(MYLK):c.*73A>C rs528233991 0.01859
NM_053025.4(MYLK):c.*1538A>G rs116709353 0.01769
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485 0.01370
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_053025.4(MYLK):c.*945G>A rs112095273 0.01003
NM_053025.4(MYLK):c.*197T>A rs116218482 0.00949
NM_053025.4(MYLK):c.*213T>A rs115815057 0.00946
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675 0.00575
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788 0.00558
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_053025.4(MYLK):c.*1090A>G rs139868162 0.00460
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751 0.00406
NM_053025.4(MYLK):c.422+14G>C rs146112057 0.00400
NM_053025.4(MYLK):c.*404G>A rs115391213 0.00380
NM_053025.4(MYLK):c.984G>A (p.Ser328=) rs115018449 0.00277
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_053025.4(MYLK):c.*95C>G rs560639262 0.00132
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_053025.4(MYLK):c.*1653G>A rs780658640 0.00096
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_053025.4(MYLK):c.-279G>A rs184172230 0.00084
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_053025.4(MYLK):c.*1647G>C rs182575175 0.00051
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_053025.4(MYLK):c.*1070T>A rs185600011 0.00044
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys) rs181663420 0.00042
NM_053025.4(MYLK):c.-228C>G rs886057869 0.00041
NM_053025.4(MYLK):c.*1135G>A rs150645157 0.00036
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp) rs143258617 0.00035
NM_053025.4(MYLK):c.*1191T>C rs756047939 0.00032
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) rs56262958 0.00032
NM_053025.4(MYLK):c.-229C>T rs1040685992 0.00028
NM_053025.4(MYLK):c.5114+8G>A rs202229368 0.00028
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497 0.00026
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg) rs147770839 0.00022
NM_053025.4(MYLK):c.455G>A (p.Arg152His) rs201754358 0.00020
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) rs150007422 0.00018
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln) rs145507832 0.00017
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_053025.4(MYLK):c.-75A>G rs75245913 0.00015
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_053025.4(MYLK):c.207C>T (p.Asn69=) rs376457425 0.00014
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336 0.00014
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=) rs146320279 0.00014
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221 0.00014
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) rs371602931 0.00014
NM_053025.4(MYLK):c.-197T>C rs528654061 0.00012
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969 0.00012
NM_053025.4(MYLK):c.-185-5A>G rs569756528 0.00010
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) rs773391076 0.00010
NM_053025.4(MYLK):c.2799G>A (p.Val933=) rs144806671 0.00010
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666 0.00010
NM_053025.4(MYLK):c.-214C>A rs1323952242 0.00009
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) rs374665486 0.00009
NM_053025.4(MYLK):c.-277T>C rs886057870 0.00008
NM_053025.4(MYLK):c.1212C>A (p.Pro404=) rs765597431 0.00008
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=) rs553472487 0.00008
NM_053025.4(MYLK):c.1651+7T>C rs758327487 0.00007
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_053025.4(MYLK):c.601C>T (p.Leu201=) rs773082759 0.00007
NM_053025.4(MYLK):c.1752A>G (p.Leu584=) rs775877814 0.00006
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile) rs766027720 0.00006
NM_053025.4(MYLK):c.2049G>A (p.Gln683=) rs757464897 0.00006
NM_053025.4(MYLK):c.*1134C>T rs539295972 0.00004
NM_053025.4(MYLK):c.*334C>T rs565933037 0.00004
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538 0.00004
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) rs35436690 0.00004
NM_053025.4(MYLK):c.2124C>T (p.Ala708=) rs372939794 0.00004
NM_053025.4(MYLK):c.2733G>A (p.Ser911=) rs200117191 0.00004
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) rs368229473 0.00004
NM_053025.4(MYLK):c.374-9T>C rs376695367 0.00004
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) rs145872838 0.00004
NM_053025.4(MYLK):c.993G>A (p.Thr331=) rs55932343 0.00004
NM_053025.4(MYLK):c.2781C>T (p.Ala927=) rs12172928 0.00003
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=) rs376676607 0.00003
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=) rs371814184 0.00003
NM_053025.4(MYLK):c.4744G>A (p.Val1582Met) rs755510742 0.00003
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp) rs372482276 0.00003
NM_053025.4(MYLK):c.859A>G (p.Ser287Gly) rs886057865 0.00003
NM_053025.4(MYLK):c.*1630G>A rs886057839 0.00002
NM_053025.4(MYLK):c.1023T>G (p.Thr341=) rs201619646 0.00002
NM_053025.4(MYLK):c.1359C>T (p.Pro453=) rs200973568 0.00002
NM_053025.4(MYLK):c.188A>G (p.Gln63Arg) rs778259023 0.00002
NM_053025.4(MYLK):c.2086G>A (p.Glu696Lys) rs769548990 0.00002
NM_053025.4(MYLK):c.2628C>T (p.Arg876=) rs571744275 0.00002
NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln) rs142421063 0.00002
NM_053025.4(MYLK):c.5329C>T (p.Pro1777Ser) rs748200926 0.00002
NM_053025.4(MYLK):c.643A>G (p.Met215Val) rs754479443 0.00002
NM_053025.4(MYLK):c.*389G>C rs1233084998 0.00001
NM_053025.4(MYLK):c.*960C>T rs886057844 0.00001
NM_053025.4(MYLK):c.1314C>T (p.Ser438=) rs200423954 0.00001
NM_053025.4(MYLK):c.1334T>G (p.Val445Gly) rs760407806 0.00001
NM_053025.4(MYLK):c.1480G>A (p.Gly494Ser) rs1002989047 0.00001
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) rs552998417 0.00001
NM_053025.4(MYLK):c.1672C>T (p.Arg558Cys) rs1272395846 0.00001
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn) rs749069560 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 0.00001
NM_053025.4(MYLK):c.2604C>T (p.Asp868=) rs372924929 0.00001
NM_053025.4(MYLK):c.2899G>A (p.Val967Met) rs201711566 0.00001
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=) rs1060504648 0.00001
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=) rs774568740 0.00001
NM_053025.4(MYLK):c.3608C>T (p.Ser1203Phe) rs777876067 0.00001
NM_053025.4(MYLK):c.3705A>C (p.Ala1235=) rs563569935 0.00001
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=) rs563116446 0.00001
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=) rs540804249 0.00001
NM_053025.4(MYLK):c.682G>A (p.Val228Met) rs781483544 0.00001
NM_053025.4(MYLK):c.706G>A (p.Val236Met) rs923797303 0.00001
NM_053025.4(MYLK):c.*1040G>A rs2057289816
NM_053025.4(MYLK):c.*1210T>C rs886057841
NM_053025.4(MYLK):c.*1509A>G rs970511770
NM_053025.4(MYLK):c.*1519T>C rs962355860
NM_053025.4(MYLK):c.*1576G>A rs769291281
NM_053025.4(MYLK):c.*246A>G rs886057855
NM_053025.4(MYLK):c.*54A>G rs2057326753
NM_053025.4(MYLK):c.*712G>A rs886057849
NM_053025.4(MYLK):c.*802C>T rs886057847
NM_053025.4(MYLK):c.*981A>G rs1381461900
NM_053025.4(MYLK):c.-130A>C rs886057867
NM_053025.4(MYLK):c.-186+10C>A rs886057868
NM_053025.4(MYLK):c.-236C>A rs929104663
NM_053025.4(MYLK):c.-24C>T rs553555866
NM_053025.4(MYLK):c.-260C>A rs1472462674
NM_053025.4(MYLK):c.-281G>A rs1014543148
NM_053025.4(MYLK):c.-72C>T rs2700352
NM_053025.4(MYLK):c.1027A>G (p.Ser343Gly) rs2062585123
NM_053025.4(MYLK):c.1297T>C (p.Phe433Leu) rs886057864
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.4(MYLK):c.2564C>T (p.Ala855Val) rs886057863
NM_053025.4(MYLK):c.256C>G (p.Arg86Gly) rs368822172
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_053025.4(MYLK):c.2760C>G (p.Ala920=) rs368080781
NM_053025.4(MYLK):c.2779G>A (p.Ala927Thr) rs886057862
NM_053025.4(MYLK):c.2829G>T (p.Arg943Ser) rs886057861
NM_053025.4(MYLK):c.3024G>A (p.Val1008=) rs886057860
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser) rs11558550
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.4054T>C (p.Trp1352Arg) rs886057859
NM_053025.4(MYLK):c.4289-4C>T rs376670657
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_053025.4(MYLK):c.5224A>G (p.Arg1742Gly) rs886057858
NM_053025.4(MYLK):c.999G>T (p.Pro333=) rs13319347

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.