ClinVar Miner

List of variants in gene JAK1 reported as benign for not provided

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002227.4(JAK1):c.1459-7C>T rs310229 0.40715
NM_002227.4(JAK1):c.2199A>G (p.Pro733=) rs2230588 0.36760
NM_002227.4(JAK1):c.2049C>T (p.Ser683=) rs2230587 0.15019
NM_002227.4(JAK1):c.579T>C (p.Ala193=) rs45598436 0.08037
NM_002227.4(JAK1):c.3096G>A (p.Lys1032=) rs12129819 0.07882
NM_002227.4(JAK1):c.2097C>G (p.Ala699=) rs3737139 0.05252
NM_002227.4(JAK1):c.1590C>T (p.Ile530=) rs2230586 0.05249
NM_002227.4(JAK1):c.546A>G (p.Gly182=) rs11585932 0.05248
NM_002227.4(JAK1):c.3108C>T (p.Thr1036=) rs17127025 0.01648
NM_002227.4(JAK1):c.647+7C>T rs145378558 0.00677
NM_002227.4(JAK1):c.912G>A (p.Ser304=) rs115098134 0.00505
NM_002227.4(JAK1):c.288C>T (p.Thr96=) rs144427356 0.00161
NM_002227.4(JAK1):c.3093T>C (p.Asp1031=) rs17392258 0.00128
NM_002227.4(JAK1):c.991-4T>C rs140703760 0.00128
NM_002227.4(JAK1):c.3258+16C>A rs2274944 0.00080
NM_002227.4(JAK1):c.1335-14A>G rs544050621 0.00068
NM_002227.4(JAK1):c.2394G>A (p.Thr798=) rs200208839 0.00037
NM_002227.4(JAK1):c.1335-7C>G rs201443299 0.00031
NM_002227.4(JAK1):c.3378A>G (p.Gln1126=) rs1129739 0.00019
NM_002227.4(JAK1):c.206-13del
NM_002227.4(JAK1):c.3258+15dup
NM_002227.4(JAK1):c.414C>T (p.Tyr138=) rs35237903
NM_002227.4(JAK1):c.7-14T>A

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