ClinVar Miner

List of variants in gene ABRAXAS1 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_139076.3(ABRAXAS1):c.216-34G>A rs6535478 0.61793
NM_139076.3(ABRAXAS1):c.88-95_88-94insC rs35608460 0.59694
NM_139076.3(ABRAXAS1):c.215+176C>T rs17352824 0.59154
NM_139076.3(ABRAXAS1):c.1042G>A (p.Ala348Thr) rs12642536 0.34822
NM_139076.3(ABRAXAS1):c.682-234G>A rs10516689 0.34820
NM_139076.3(ABRAXAS1):c.796+235C>G rs11099602 0.34743
NM_139076.3(ABRAXAS1):c.596+97T>C rs60638712 0.23977
NM_139076.3(ABRAXAS1):c.681+132G>A rs56271349 0.23505
NM_139076.3(ABRAXAS1):c.179-245G>A rs17006848 0.10868
NM_139076.3(ABRAXAS1):c.597-224G>A rs17355027 0.10250
NM_139076.3(ABRAXAS1):c.216-44T>C rs75295148 0.10204
NM_139076.3(ABRAXAS1):c.682-93A>C rs72931492 0.09954
NM_139076.3(ABRAXAS1):c.682-306C>T rs72931495 0.08998
NM_139076.3(ABRAXAS1):c.178+129C>A rs144237623 0.06134
NM_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn) rs13125836 0.04289
NM_139076.3(ABRAXAS1):c.282+131A>T rs111692631 0.04058
NM_139076.3(ABRAXAS1):c.477-259C>T rs79656940 0.03971
NM_139076.3(ABRAXAS1):c.682-107T>G rs79585753 0.03040
NM_139076.3(ABRAXAS1):c.681+215T>C rs78607458 0.02978
NM_139076.3(ABRAXAS1):c.283-108C>T rs115192589 0.02599
NM_139076.3(ABRAXAS1):c.951C>T (p.Leu317=) rs79357787 0.00772
NM_139076.3(ABRAXAS1):c.422C>T (p.Thr141Ile) rs150207999 0.00469
NM_139076.3(ABRAXAS1):c.476+18A>T rs199567861 0.00096
NM_139076.3(ABRAXAS1):c.246G>A (p.Glu82=) rs367969368 0.00011
NM_139076.3(ABRAXAS1):c.179-37_179-33del rs538126295
NM_139076.3(ABRAXAS1):c.215+206T>G rs17352803
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu) rs137876115
NM_139076.3(ABRAXAS1):c.476+264C>G rs7660276
NM_139076.3(ABRAXAS1):c.477-180_477-179dup rs148107040
NM_139076.3(ABRAXAS1):c.594C>T (p.His198=) rs144724610
NM_139076.3(ABRAXAS1):c.597-66_597-63del rs2110037466
NM_139076.3(ABRAXAS1):c.597-70_597-67del rs139661623
NM_139076.3(ABRAXAS1):c.797-15T>A rs201424228
NM_139076.3(ABRAXAS1):c.88-94_88-93insC rs72610918

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.