ClinVar Miner

List of variants reported as uncertain significance for aortic aneurysm, familial thoracic 6 by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Included ClinVar conditions (4):

Aortic aneurysm, familial thoracic 6
Aortic aneurysm, familial thoracic 6; Congenital aneurysm of ascending aorta; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5; Moyamoya disease
Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome
Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys)	rs768142427	0.00003
NM_000138.5(FBN1):c.6493G>T (p.Val2165Leu)	rs200469438	0.00001
NM_004612.4(TGFBR1):c.1346A>G (p.Lys449Arg)	rs1564176059
NM_005902.4(SMAD3):c.1136G>T (p.Gly379Val)	rs1963252361

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