List of variants reported as likely pathogenic for Acute megakaryoblastic leukemia by Database of Curated Mutations (DoCM)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		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.