ClinVar Miner

List of variants studied for aortic aneurysm, familial thoracic 1

Included ClinVar conditions (6):
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_012186.3(FOXE3):c.466G>A (p.Asp156Asn) rs202086896 0.00020
NM_002317.7(LOX):c.235G>A (p.Ala79Thr) rs752839330 0.00016
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg) rs761892127 0.00010
NM_002317.7(LOX):c.460C>T (p.Leu154Phe) rs767855588 0.00006
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) rs367943249 0.00006
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) rs745571457 0.00004
NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu) rs745950487 0.00004
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu) rs764827921 0.00002
NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp) rs749960549 0.00002
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr) rs772919504 0.00001
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn) rs1050298581 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg) rs1553508473
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser) rs1566912242
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.6596G>A (p.Gly2199Asp) rs1566895247
NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe) rs1566894230
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu) rs1566889147
NM_000138.5(FBN1):c.813C>G (p.Cys271Trp) rs765692335
NM_001009944.3(PKD1):c.6952C>T (p.Arg2318Cys) rs768275494
NM_001844.5(COL2A1):c.3144A>T (p.Arg1048Ser) rs758162798
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002317.7(LOX):c.604G>T (p.Gly202Ter) rs1473260982
NM_002317.7(LOX):c.743C>T (p.Thr248Ile) rs1561420103
NM_002317.7(LOX):c.800A>C (p.Gln267Pro) rs886040967
NM_002317.7(LOX):c.839G>T (p.Ser280Ile) rs886040965
NM_002474.3(MYH11):c.2222T>C (p.Met741Thr) rs1555560373
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln) rs749181134
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_005902.4(SMAD3):c.271C>T (p.Leu91=)
NM_005902.4(SMAD3):c.715G>T (p.Glu239Ter) rs387906853
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser) rs1391534565
XM_005247492.1:c.2736delG

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