ClinVar Miner

List of variants reported as pathogenic for aortic aneurysm, familial thoracic 1 by Heart Medical Centre, First Affiliated Hospital of Gannan Medical University

Included ClinVar conditions (6):

Aortic aneurysm, familial thoracic 4; Congenital aneurysm of ascending aorta
Aortic aneurysm, familial thoracic 6; Congenital aneurysm of ascending aorta; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5; Moyamoya disease
Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta; Acute aortic dissection
Congenital aneurysm of ascending aorta; Loeys-Dietz syndrome
Marfan syndrome; MASS syndrome; Congenital aneurysm of ascending aorta; Weill-Marchesani syndrome; Ectopia lentis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	rs730880147
NM_005902.4(SMAD3):c.271C>T (p.Leu91=)

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