ClinVar Miner

List of variants reported as uncertain significance for T-B+ severe combined immunodeficiency due to JAK3 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_000215.4(JAK3):c.*73T>C rs149873298 0.00605
NM_000215.4(JAK3):c.108G>C (p.Gly36=) rs149701114 0.00201
NM_000215.4(JAK3):c.*653T>A rs886054274 0.00143
NM_000215.4(JAK3):c.1581G>A (p.Leu527=) rs3213408 0.00121
NM_000215.4(JAK3):c.1929G>A (p.Leu643=) rs138645044 0.00119
NM_000215.4(JAK3):c.*404G>A rs200207634 0.00117
NM_000215.4(JAK3):c.*1833G>A rs546293977 0.00113
NM_000215.4(JAK3):c.252G>A (p.Pro84=) rs139738701 0.00102
NM_000215.4(JAK3):c.2079C>T (p.Pro693=) rs145377049 0.00096
NM_000215.4(JAK3):c.1551T>A (p.Pro517=) rs143936463 0.00075
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu) rs146837396 0.00056
NM_000215.4(JAK3):c.23C>T (p.Thr8Met) rs145500023 0.00056
NM_000215.4(JAK3):c.*1523C>T rs145985086 0.00046
NM_000215.4(JAK3):c.3217C>T (p.Leu1073Phe) rs200580168 0.00036
NM_000215.4(JAK3):c.696C>T (p.His232=) rs199902822 0.00029
NM_000215.4(JAK3):c.*507A>T rs572139474 0.00027
NM_000215.4(JAK3):c.187A>G (p.Ile63Val) rs144405201 0.00026
NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys) rs200077579 0.00024
NM_000215.4(JAK3):c.*371C>T rs185462850 0.00021
NM_000215.4(JAK3):c.*503G>A rs201036874 0.00019
NM_000215.4(JAK3):c.2680+15G>A rs201288968 0.00019
NM_000215.4(JAK3):c.35C>T (p.Pro12Leu) rs56061056 0.00015
NM_000215.4(JAK3):c.*501C>T rs192417008 0.00014
NM_000215.4(JAK3):c.183C>T (p.Ser61=) rs200269517 0.00014
NM_000215.4(JAK3):c.*403C>T rs1011458072 0.00013
NM_000215.4(JAK3):c.*943G>C rs370189146 0.00012
NM_000215.4(JAK3):c.896T>C (p.Val299Ala) rs571404212 0.00012
NM_000215.4(JAK3):c.*974G>A rs543679158 0.00011
NM_000215.4(JAK3):c.119G>A (p.Arg40His) rs56384680 0.00011
NM_000215.4(JAK3):c.649G>A (p.Val217Met) rs202167678 0.00011
NM_000215.4(JAK3):c.*1287A>T rs771793558 0.00010
NM_000215.4(JAK3):c.2660G>A (p.Arg887His) rs148688786 0.00010
NM_000215.4(JAK3):c.*985C>T rs886054272 0.00009
NM_000215.4(JAK3):c.2097G>A (p.Ala699=) rs571402316 0.00009
NM_000215.4(JAK3):c.2391A>G (p.Ala797=) rs199910484 0.00009
NM_000215.4(JAK3):c.3183G>T (p.Pro1061=) rs369402343 0.00009
NM_000215.3(JAK3):c.-54C>T rs201353678 0.00008
NM_000215.4(JAK3):c.2681-11G>T rs201970522 0.00007
NM_000215.4(JAK3):c.1184G>A (p.Arg395His) rs143038064 0.00006
NM_000215.4(JAK3):c.1794G>C (p.Met598Ile) rs138143146 0.00006
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe) rs35785705 0.00005
NM_000215.4(JAK3):c.*1014C>T rs560529368 0.00004
NM_000215.4(JAK3):c.*847C>T rs886054273 0.00004
NM_000215.4(JAK3):c.2254C>T (p.Leu752=) rs200123352 0.00004
NM_000215.4(JAK3):c.2350+7G>A rs200658439 0.00004
NM_000215.4(JAK3):c.2395C>T (p.Arg799Cys) rs201241352 0.00004
NM_000215.4(JAK3):c.2535C>T (p.Gly845=) rs200746503 0.00004
NM_000215.4(JAK3):c.2630C>T (p.Ala877Val) rs201869359 0.00004
NM_000215.4(JAK3):c.2772C>T (p.Ser924=) rs199939250 0.00004
NM_000215.4(JAK3):c.2806-14C>G rs976222264 0.00004
NM_000215.4(JAK3):c.-19C>T rs181416110 0.00003
NM_000215.4(JAK3):c.2678C>T (p.Pro893Leu) rs772027199 0.00003
NM_000215.4(JAK3):c.2680+3G>C rs749481781 0.00003
NM_000215.4(JAK3):c.3213C>T (p.His1071=) rs757910571 0.00003
NM_000215.4(JAK3):c.3267C>T (p.Ser1089=) rs138593705 0.00003
NM_000215.4(JAK3):c.*1522C>T rs1449106505 0.00002
NM_000215.4(JAK3):c.*1778A>G rs886054266 0.00002
NM_000215.4(JAK3):c.1653A>G (p.Thr551=) rs201698409 0.00002
NM_000215.4(JAK3):c.2490+4A>C rs745806475 0.00002
NM_000215.4(JAK3):c.2692C>T (p.Leu898=) rs202043320 0.00002
NM_000215.4(JAK3):c.2761C>T (p.Leu921Phe) rs886054278 0.00002
NM_000215.3(JAK3):c.-105G>A rs950208815 0.00001
NM_000215.4(JAK3):c.*1264G>C rs552602675 0.00001
NM_000215.4(JAK3):c.*1531T>C rs886054268 0.00001
NM_000215.4(JAK3):c.-3C>T rs754275786 0.00001
NM_000215.4(JAK3):c.1550C>T (p.Pro517Leu) rs759375144 0.00001
NM_000215.4(JAK3):c.1586A>G (p.His529Arg) rs142805245 0.00001
NM_000215.4(JAK3):c.1609C>T (p.Arg537Trp) rs746305522 0.00001
NM_000215.4(JAK3):c.1646G>A (p.Arg549Gln) rs201972084 0.00001
NM_000215.4(JAK3):c.521C>T (p.Ala174Val) rs767865565 0.00001
NM_000215.4(JAK3):c.*1094G>C rs886054271
NM_000215.4(JAK3):c.*1218C>A rs886054270
NM_000215.4(JAK3):c.*137G>T rs199679264
NM_000215.4(JAK3):c.*1398G>C rs2094202113
NM_000215.4(JAK3):c.*1509G>T rs750558618
NM_000215.4(JAK3):c.*1661T>G rs1406329008
NM_000215.4(JAK3):c.*1752A>G rs886054267
NM_000215.4(JAK3):c.*1787C>A rs569854764
NM_000215.4(JAK3):c.*1835G>A rs990232897
NM_000215.4(JAK3):c.*204G>A rs2094204211
NM_000215.4(JAK3):c.*271G>T rs886054277
NM_000215.4(JAK3):c.*306G>A rs200658727
NM_000215.4(JAK3):c.*422C>T rs902489404
NM_000215.4(JAK3):c.*593C>T rs886054275
NM_000215.4(JAK3):c.*607G>A rs1364267735
NM_000215.4(JAK3):c.*771C>T rs923086181
NM_000215.4(JAK3):c.*899A>G rs2094202959
NM_000215.4(JAK3):c.1678G>T (p.Ala560Ser) rs771634723
NM_000215.4(JAK3):c.1679C>G (p.Ala560Gly) rs886054279
NM_000215.4(JAK3):c.1786+13C>T rs781208496
NM_000215.4(JAK3):c.2222G>A (p.Arg741Gln) rs202027945
NM_000215.4(JAK3):c.2258C>A (p.Ala753Asp) rs2094220604
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.4(JAK3):c.2773C>T (p.Arg925Cys) rs149452625
NM_000215.4(JAK3):c.297G>A (p.Leu99=) rs3212716
NM_000215.4(JAK3):c.3289A>T (p.Met1097Leu) rs201301192
NM_000215.4(JAK3):c.648G>T (p.Thr216=) rs200376035
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu) rs200319694

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