ClinVar Miner

List of variants in gene ASXL3 reported as benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.4239C>T (p.Val1413=) rs149577667 0.00722
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg) rs144534810 0.00679
NM_030632.3(ASXL3):c.2965C>G (p.Arg989Gly) rs190659120 0.00134
NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg) rs185753602 0.00127
NM_030632.3(ASXL3):c.2193G>A (p.Val731=) rs61978635 0.00089
NM_030632.3(ASXL3):c.2731G>A (p.Val911Met) rs201107680 0.00061
NM_030632.3(ASXL3):c.138-17969A>G
NM_030632.3(ASXL3):c.2579T>A (p.Met860Lys) rs61734121
NM_030632.3(ASXL3):c.4303G>A (p.Glu1435Lys)
NM_030632.3(ASXL3):c.6074C>G (p.Pro2025Arg)

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.