ClinVar Miner

List of variants in gene JAK3 studied for Severe combined immunodeficiency disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.3096+18A>G rs2302603 0.36048
NM_000215.4(JAK3):c.1787-11dup rs397839895 0.02943
NM_000215.4(JAK3):c.2259C>T (p.Ala753=) rs35458530 0.01034
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000215.4(JAK3):c.190C>T (p.Leu64=) rs886054280 0.00001
NM_000215.3(JAK3):c.*1965_*1966insGT rs10672762
NM_000215.3(JAK3):c.*1966_*1967delTT rs10580414
NM_000215.4(JAK3):c.*1353dup rs886054269
NM_000215.4(JAK3):c.*1931del rs147498283
NM_000215.4(JAK3):c.*222CT[1] rs3212801
NM_000215.4(JAK3):c.*340dup rs886054276
NM_000215.4(JAK3):c.*841_*842dup rs34803277
NM_000215.4(JAK3):c.1291C>T (p.Arg431Trp) rs1274345651
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000215.4(JAK3):c.1915-11G>A
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)
NM_000215.4(JAK3):c.2143G>A (p.Val715Ile) rs1057520020
NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs) rs1555743321
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
NM_000215.4(JAK3):c.308+16del rs3212717
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364

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.