ClinVar Miner

List of variants reported as uncertain significance for aortic aneurysm, familial thoracic 1

Included ClinVar conditions (6):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
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_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg) rs761892127 0.00010
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.6596G>A (p.Gly2199Asp) rs1566895247
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu) rs1566889147
NM_001009944.3(PKD1):c.6952C>T (p.Arg2318Cys) rs768275494
NM_001844.5(COL2A1):c.3144A>T (p.Arg1048Ser) rs758162798
NM_002474.3(MYH11):c.2222T>C (p.Met741Thr) rs1555560373
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln) rs749181134
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612

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