ClinVar Miner

List of variants reported as likely benign for aortic aneurysm, familial thoracic 1 by CSER _CC_NCGL, University of Washington

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_053025.4(MYLK):c.399G>T (p.Gln133His)	rs140148380	0.00167
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)	rs112215250	0.00115

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