ClinVar Miner

List of variants in gene ITK reported as benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005546.4(ITK):c.*997A>G rs27988 0.91454
NM_005546.4(ITK):c.*1188A>G rs17054397 0.14616
NM_005546.4(ITK):c.1232+19G>A rs17595865 0.05163
NM_005546.4(ITK):c.769-10A>T rs55646940 0.01845
NM_005546.4(ITK):c.769-13C>T rs56100638 0.01844
NM_005546.4(ITK):c.*1361G>A rs79627475 0.01736
NM_005546.4(ITK):c.*386G>A rs75760314 0.01731
NM_005546.4(ITK):c.1450-17G>A rs13156643 0.01711
NM_005546.4(ITK):c.*153A>C rs2229736 0.01410
NM_005546.4(ITK):c.*1208G>T rs115086689 0.01375
NM_005546.4(ITK):c.-32C>A rs148134638 0.01053
NM_005546.4(ITK):c.1398G>T (p.Val466=) rs17595896 0.00505
NM_005546.4(ITK):c.578G>A (p.Arg193Gln) rs17054374 0.00396
NM_005546.4(ITK):c.1759G>A (p.Val587Ile) rs56005928 0.00337
NM_005546.4(ITK):c.1276C>T (p.Leu426=) rs145991142 0.00109
NM_005546.4(ITK):c.228T>C (p.Tyr76=) rs140451238 0.00080
NC_000005.10:g.157180782C>T rs146866105 0.00029
NM_005546.4(ITK):c.495+12C>T rs376728021 0.00015
NM_005546.4(ITK):c.*1350G>A rs543185318 0.00004
NM_005546.4(ITK):c.1634-16T>C rs199877199 0.00003
NM_005546.4(ITK):c.244-8G>A rs199759038 0.00002
NM_005546.4(ITK):c.*1866C>T rs111629533
NM_005546.4(ITK):c.*486G>T rs116624314
NM_005546.4(ITK):c.*941C>A rs3892245
NM_005546.4(ITK):c.1061-19CT[8]

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