ClinVar Miner

List of variants in gene JAK3 studied for bone marrow cancer

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000215.4(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.4(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.4(JAK3):c.260T>C (p.Ile87Thr) rs1057519770

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.