ClinVar Miner

List of variants reported as pathogenic for aortic aneurysm, familial thoracic 10

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002317.7(LOX):c.351del (p.Arg118fs) rs1274931972
NM_002317.7(LOX):c.445G>T (p.Gly149Ter) rs766969559
NM_002317.7(LOX):c.53_66del (p.Leu18fs) rs2152591749
NM_002317.7(LOX):c.800A>C (p.Gln267Pro) rs886040967
NM_002317.7(LOX):c.839G>T (p.Ser280Ile) rs886040965
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852

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