ClinVar Miner

List of variants studied for Thoracic aortic aneurysm by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
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_005585.5(SMAD6):c.86G>C (p.Gly29Ala) rs1411192932
NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter) rs2135366023
Single allele

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