ClinVar Miner

List of variants studied for aortic aneurysm

Included ClinVar conditions (6):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_003242.6(TGFBR2):c.455-4T>A rs11466512 0.25954
NM_001613.4(ACTA2):c.370-19T>C rs714887 0.07944
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03013
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_053025.4(MYLK):c.4844C>T (p.Ala1615Val) rs202177283 0.00030
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys) rs369409348 0.00002
NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro) rs1213841516 0.00001
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667 0.00001
NM_019055.6(ROBO4):c.703G>A (p.Val235Met) rs776228672 0.00001
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro) rs1566914005
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala) rs1411192932
NM_005744.5(ARIH1):c.131A>G (p.Glu44Gly) rs2063786716
NM_005744.5(ARIH1):c.43G>C (p.Glu15Gln) rs1052050835
NM_005744.5(ARIH1):c.511C>T (p.Arg171Ter) rs746505361
NM_005902.4(SMAD3):c.1A>G (p.Met1Val) rs1555405092
NM_018676.4(THSD1):c.1051C>T (p.Gln351Ter) rs1238167916
NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter) rs2135366023
Single allele

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