ClinVar Miner

List of variants in gene TGFBR1 reported as likely benign for Thoracic aortic aneurysm and aortic dissection

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Total variants: 56
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HGVS dbSNP
NM_004612.3(TGFBR1):c.575-9dupT rs863223798
NM_004612.4(TGFBR1):c.*1183G>A rs184564501
NM_004612.4(TGFBR1):c.*1428G>C rs11568811
NM_004612.4(TGFBR1):c.*1515G>A rs11568812
NM_004612.4(TGFBR1):c.*1659T>C rs200082162
NM_004612.4(TGFBR1):c.*1710G>A rs200197062
NM_004612.4(TGFBR1):c.*1804A>G rs200656974
NM_004612.4(TGFBR1):c.*2005T>G rs144216869
NM_004612.4(TGFBR1):c.*2086T>G rs148063684
NM_004612.4(TGFBR1):c.*2100T>G rs532530728
NM_004612.4(TGFBR1):c.*2179del rs373576679
NM_004612.4(TGFBR1):c.*2645A>C rs17724567
NM_004612.4(TGFBR1):c.*2685T>G rs145043837
NM_004612.4(TGFBR1):c.*2703G>A rs76392135
NM_004612.4(TGFBR1):c.*3192T>C rs148797981
NM_004612.4(TGFBR1):c.*3261T>C rs117440593
NM_004612.4(TGFBR1):c.*3262C>T rs78385793
NM_004612.4(TGFBR1):c.*3430del rs78078491
NM_004612.4(TGFBR1):c.*360A>G rs145692006
NM_004612.4(TGFBR1):c.*3704A>G rs563433922
NM_004612.4(TGFBR1):c.*3798G>A rs141277814
NM_004612.4(TGFBR1):c.*3830T>C rs186157987
NM_004612.4(TGFBR1):c.*4202A>G rs200206515
NM_004612.4(TGFBR1):c.*4300C>T rs41283642
NM_004612.4(TGFBR1):c.*4356A>G rs201446431
NM_004612.4(TGFBR1):c.*4493G>A rs41274644
NM_004612.4(TGFBR1):c.*4499G>A rs79641064
NM_004612.4(TGFBR1):c.*4565T>C rs138721378
NM_004612.4(TGFBR1):c.*4623G>C rs200806851
NM_004612.4(TGFBR1):c.*4728G>A rs187415138
NM_004612.4(TGFBR1):c.*4809A>T rs185400896
NM_004612.4(TGFBR1):c.*566T>C rs11568808
NM_004612.4(TGFBR1):c.*789G>A rs200428927
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=) rs758280185
NM_004612.4(TGFBR1):c.1104T>G (p.Ala368=) rs1060504426
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.1125A>G (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.1256-8T>C rs1187207740
NM_004612.4(TGFBR1):c.1278G>T (p.Leu426=) rs368928967
NM_004612.4(TGFBR1):c.1311A>T (p.Ser437=) rs1554702468
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=) rs200055681
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.4(TGFBR1):c.423C>G (p.Leu141=) rs1564153944
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.4(TGFBR1):c.52_54GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.582A>T (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.810T>C (p.Asn270=) rs147388628
NM_004612.4(TGFBR1):c.87G>C (p.Pro29=) rs1246631676
NM_004612.4(TGFBR1):c.897G>A (p.Val299=) rs369881419
NM_004612.4(TGFBR1):c.933C>T (p.Ser311=) rs200912890
NM_004612.4(TGFBR1):c.99G>A (p.Ala33=) rs779055286

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