ClinVar Miner

List of variants in gene JAK3 reported as likely pathogenic for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_000215.3(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.3(JAK3):c.1503G>T (p.Gln501His) rs201283129
NM_000215.3(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.3(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.260T>C (p.Ile87Thr) rs1057519770
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723

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