ClinVar Miner

List of variants reported as likely pathogenic for Aortic aneurysm, familial thoracic 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040113.2(MYH11):c.654+1G>A rs770424951
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs) rs1235801428
NM_002474.3(MYH11):c.2180+1G>A
NM_002474.3(MYH11):c.2380C>T (p.Gln794Ter) rs2151259960
NM_002474.3(MYH11):c.2998-2A>G
NM_002474.3(MYH11):c.3424C>T (p.Arg1142Ter)
NM_002474.3(MYH11):c.3506+1G>A rs2151240720
NM_002474.3(MYH11):c.3631C>T (p.Gln1211Ter) rs2040998358
NM_002474.3(MYH11):c.3652-2A>G
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) rs1555554139
NM_002474.3(MYH11):c.3858+1G>A rs2151225126
NM_002474.3(MYH11):c.3963+1G>C rs2151219802
NM_002474.3(MYH11):c.3963+1G>T
NM_002474.3(MYH11):c.3963+2T>C rs111325146
NM_002474.3(MYH11):c.4578+1del
NM_002474.3(MYH11):c.5171+2T>C
NM_002474.3(MYH11):c.5295+1G>C
NM_002474.3(MYH11):c.634-2A>C
NM_002474.3(MYH11):c.766A>G (p.Ile256Val)

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.