ClinVar Miner

List of variants in gene ABRAXAS1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_139076.3(ABRAXAS1):c.1011del (p.Ala338fs) rs764429803 0.00031
NM_139076.3(ABRAXAS1):c.272A>T (p.Asn91Ile) rs767146349 0.00016
NM_139076.3(ABRAXAS1):c.178+9T>C rs367733190 0.00007
NM_139076.3(ABRAXAS1):c.322C>G (p.Gln108Glu) rs573603690 0.00005
NM_139076.3(ABRAXAS1):c.853C>T (p.Arg285Trp) rs150371881 0.00005
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter) rs201698934 0.00004
NM_139076.3(ABRAXAS1):c.580G>T (p.Ala194Ser) rs1020540603 0.00004
NM_139076.3(ABRAXAS1):c.533G>T (p.Gly178Val) rs773434048 0.00003
NM_139076.3(ABRAXAS1):c.890G>T (p.Cys297Phe) rs377162113 0.00003
NM_139076.3(ABRAXAS1):c.662C>T (p.Ser221Leu) rs1415231112 0.00002
NM_139076.3(ABRAXAS1):c.1102_1104del (p.Lys368del) rs878855206 0.00001
NM_139076.3(ABRAXAS1):c.1152A>C (p.Lys384Asn) rs763567031 0.00001
NM_139076.3(ABRAXAS1):c.233G>A (p.Gly78Asp) rs587780265 0.00001
NM_139076.3(ABRAXAS1):c.311G>A (p.Arg104His) rs542570943 0.00001
NM_139076.3(ABRAXAS1):c.473A>T (p.Lys158Ile) rs1445851548 0.00001
NM_139076.3(ABRAXAS1):c.601A>C (p.Lys201Gln) rs901660662 0.00001
NM_139076.3(ABRAXAS1):c.658G>A (p.Ala220Thr) rs748861737 0.00001
NM_139076.3(ABRAXAS1):c.796+1G>A rs1262378912 0.00001
NM_139076.3(ABRAXAS1):c.912A>T (p.Arg304Ser) rs778300694 0.00001
NM_139076.3(ABRAXAS1):c.100C>A (p.Leu34Ile) rs1723022716
NM_139076.3(ABRAXAS1):c.1124G>C (p.Gly375Ala) rs751122263
NM_139076.3(ABRAXAS1):c.1155G>C (p.Met385Ile) rs1553936012
NM_139076.3(ABRAXAS1):c.1180A>C (p.Ile394Leu) rs1560570462
NM_139076.3(ABRAXAS1):c.1187del (p.Lys396fs)
NM_139076.3(ABRAXAS1):c.1214G>A (p.Arg405Gln) rs200281698
NM_139076.3(ABRAXAS1):c.234C>T (p.Gly78=) rs765721350
NM_139076.3(ABRAXAS1):c.250G>A (p.Ala84Thr) rs1404975428
NM_139076.3(ABRAXAS1):c.327C>G (p.Ile109Met) rs924277966
NM_139076.3(ABRAXAS1):c.332C>T (p.Thr111Met) rs1553936765
NM_139076.3(ABRAXAS1):c.345G>C (p.Arg115Ser) rs762389463
NM_139076.3(ABRAXAS1):c.359A>T (p.Asn120Ile) rs1553936762
NM_139076.3(ABRAXAS1):c.364C>T (p.Gln122Ter) rs137876115
NM_139076.3(ABRAXAS1):c.410C>T (p.Pro137Leu) rs1560574581
NM_139076.3(ABRAXAS1):c.414T>G (p.Ser138Arg) rs1722530567
NM_139076.3(ABRAXAS1):c.443G>A (p.Arg148Gln) rs760079258
NM_139076.3(ABRAXAS1):c.530T>C (p.Leu177Pro)
NM_139076.3(ABRAXAS1):c.533G>A (p.Gly178Asp) rs773434048
NM_139076.3(ABRAXAS1):c.596+9C>G rs778567938
NM_139076.3(ABRAXAS1):c.643A>T (p.Ile215Leu) rs1578126311
NM_139076.3(ABRAXAS1):c.793G>A (p.Ala265Thr)
NM_139076.3(ABRAXAS1):c.820C>T (p.Pro274Ser) rs1060503252
NM_139076.3(ABRAXAS1):c.88-7T>C
NM_139076.3(ABRAXAS1):c.952G>C (p.Asp318His) rs775345294
NM_139076.3(ABRAXAS1):c.977T>C (p.Met326Thr) rs1722176448

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.