ClinVar Miner

List of variants in gene LOX, SRFBP1 studied for Aortic aneurysm, familial thoracic 10

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002317.7(LOX):c.476C>A (p.Pro159Gln) rs41407546 0.00640
NM_002317.7(LOX):c.225C>G (p.Ala75=) rs2278226 0.00333
NM_002317.7(LOX):c.204C>T (p.Arg68=) rs201057539 0.00294
NM_002317.7(LOX):c.322G>A (p.Gly108Ser) rs200554252 0.00103
NM_002317.7(LOX):c.534T>C (p.Ser178=) rs144768703 0.00030
NM_002317.7(LOX):c.132G>C (p.Gln44His) rs934427837 0.00006
NM_002317.7(LOX):c.1190G>A (p.Arg397His) rs749796906 0.00005
NM_002317.7(LOX):c.493G>C (p.Gly165Arg) rs749364042 0.00004
NM_002317.7(LOX):c.1035+1G>A rs1213452826 0.00001
NM_002317.7(LOX):c.1189C>T (p.Arg397Cys) rs768819499 0.00001
NM_002317.7(LOX):c.137T>A (p.Ile46Asn) rs1230077744 0.00001
NM_002317.7(LOX):c.203G>C (p.Arg68Pro) rs994242735 0.00001
NM_002317.7(LOX):c.302C>T (p.Ala101Val) rs765652942 0.00001
NM_002317.7(LOX):c.355C>A (p.Pro119Thr) rs1336143561 0.00001
NM_002317.7(LOX):c.364C>T (p.Arg122Cys) rs566461481 0.00001
NM_002317.7(LOX):c.878+17C>G rs762609416 0.00001
NM_002317.7(LOX):c.986C>A (p.Ser329Tyr) rs755859651 0.00001
NM_002317.7(LOX):c.1009C>T (p.Arg337Ter) rs1754538399
NM_002317.7(LOX):c.1024_1025dup (p.Gln345fs)
NM_002317.7(LOX):c.1035G>A (p.Gln345=) rs2152589500
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002317.7(LOX):c.1102G>A (p.Asp368Asn)
NM_002317.7(LOX):c.1132G>C (p.Val378Leu)
NM_002317.7(LOX):c.1232G>A (p.Gly411Asp) rs186028768
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002317.7(LOX):c.144G>A (p.Trp48Ter)
NM_002317.7(LOX):c.262C>A (p.Arg88Ser)
NM_002317.7(LOX):c.351del (p.Arg118fs) rs1274931972
NM_002317.7(LOX):c.389C>A (p.Ser130Ter)
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.545C>G (p.Pro182Arg) rs1261420416
NM_002317.7(LOX):c.681C>G (p.Tyr227Ter)
NM_002317.7(LOX):c.749A>G (p.Tyr250Cys) rs2152590304
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.840C>A (p.Ser280Arg) rs370861938
NM_002317.7(LOX):c.878+12G>T rs1754587935
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002317.7(LOX):c.917T>C (p.Leu306Pro) rs2152589570
NM_002317.7(LOX):c.95C>G (p.Pro32Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.