ClinVar Miner

List of variants in gene combination TGFB2, TGFB2-OT1 reported as benign for Loeys-Dietz syndrome

Included ClinVar conditions (29):

Aneurysm-osteoarthritis syndrome
Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome
Congenital aneurysm of ascending aorta; Loeys-Dietz syndrome
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome 2, dominant; Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Familial thoracic aortic aneurysm and aortic dissection; Progeroid and marfanoid aspect-lipodystrophy syndrome
Loeys-Dietz syndrome
Loeys-Dietz syndrome 1
Loeys-Dietz syndrome 1; Marfan syndrome
Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 4
Loeys-Dietz syndrome 6
Loeys-Dietz syndrome 6; Congenital heart defects, multiple types, 8, with or without heterotaxy
Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome; Thoracic aortic aneurysm; Thoracic aortic dissection
Marfan syndrome
Marfan syndrome; Congenital contractural arachnodactyly
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome; Left ventricular diastolic dysfunction
Marfan syndrome; MASS syndrome; Congenital aneurysm of ascending aorta; Weill-Marchesani syndrome; Ectopia lentis
Marfan syndrome; MASS syndrome; Stiff skin syndrome; Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome; MASS syndrome; Stiff skin syndrome; Isolated ectopia lentis
Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy syndrome
Rienhoff syndrome

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_003238.6(TGFB2):c.*2431C>G	rs1046017	0.37219
NM_003238.6(TGFB2):c.*1310C>T	rs1418556	0.37003
NM_003238.6(TGFB2):c.*1624T>A	rs3737977	0.10338
NM_003238.6(TGFB2):c.*1443T>A	rs60086269	0.01705
NM_003238.6(TGFB2):c.*1585C>G	rs17047863	0.00958
NM_003238.6(TGFB2):c.*1684G>C	rs192396801	0.00452
NM_003238.6(TGFB2):c.*2269T>C	rs193244018	0.00262
NM_003238.6(TGFB2):c.*1315T>G	rs577782618	0.00214
NM_003238.6(TGFB2):c.*2108G>A	rs184256338	0.00018
NM_003238.6(TGFB2):c.*1389C>T	rs528922293	0.00004
NM_003238.6(TGFB2):c.*2008G>A	rs12408711
NM_003238.6(TGFB2):c.2360_2361del	rs3054943

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