ClinVar Miner

List of variants reported as benign for Aortic aneurysm, familial thoracic 7 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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.4194C>T (p.His1398=) rs17298941 0.02481
NM_053025.4(MYLK):c.*419C>T rs115932105 0.02102
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.383C>T (p.Ala128Val) rs143896146 0.00747
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675 0.00575
NM_053025.4(MYLK):c.-197T>C rs528654061 0.00012
NM_053025.4(MYLK):c.-72C>T rs2700352

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.