ClinVar Miner

List of variants in gene JAK3 reported as likely benign by GeneDx

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.1255-79A>G rs370696028 0.02585
NM_000215.4(JAK3):c.2978+88G>T rs527281163 0.01772
NM_000215.4(JAK3):c.2351-58C>G rs73922623 0.01554
NM_000215.4(JAK3):c.1787-84C>T rs28493430 0.01388
NM_000215.4(JAK3):c.2805+71C>T rs73020668 0.01216
NM_000215.4(JAK3):c.2978+110C>T rs3212778 0.01199
NM_000215.4(JAK3):c.566+73G>A rs3212727 0.01031
NM_000215.4(JAK3):c.1441+131T>C rs3212746 0.01027
NM_000215.4(JAK3):c.1786+14A>C rs756976635 0.00925
NM_000215.4(JAK3):c.3208-74C>T rs115332460 0.00548
NM_000215.4(JAK3):c.-26C>T rs199713123 0.00411
NM_000215.4(JAK3):c.631A>C (p.Arg211=) rs56269787 0.00207
NM_000215.4(JAK3):c.1131C>T (p.His377=) rs55802448 0.00098
NM_000215.4(JAK3):c.1899C>T (p.Tyr633=) rs538081227 0.00004
NM_000215.4(JAK3):c.267C>A (p.Ser89=) rs754716735 0.00001
NM_000215.4(JAK3):c.1914+77G>C
NM_000215.4(JAK3):c.48C>T (p.Cys16=) rs1057520953
NM_000215.4(JAK3):c.566+6_566+41del rs754402855
NM_000215.4(JAK3):c.985-15G>A rs200067874

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