ClinVar Miner

List of variants in gene JAK3 reported as pathogenic by Mendelics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter) rs1011307501 0.00001
NM_000215.4(JAK3):c.2933_2934del (p.Lys978fs) rs1380154594

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