ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as uncertain significance for aortic aneurysm, familial thoracic 1

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)	rs376154041	0.00005
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln)	rs749181134

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