ClinVar Miner

List of variants in gene combination LOX, SRFBP1 reported as pathogenic for aortic aneurysm, familial thoracic 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002317.7(LOX):c.604G>T (p.Gly202Ter) rs1473260982
NM_002317.7(LOX):c.743C>T (p.Thr248Ile) rs1561420103
NM_002317.7(LOX):c.800A>C (p.Gln267Pro) rs886040967
NM_002317.7(LOX):c.839G>T (p.Ser280Ile) rs886040965

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