ClinVar Miner

List of variants studied for aortic aneurysm (disease)

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys) rs369409348
NM_003238.5(TGFB2):c.356C>T (p.Pro119Leu) rs149533093
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_053025.4(MYLK):c.4844C>T (p.Ala1615Val) rs202177283

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