ClinVar Miner

List of variants in gene JAK3 studied for T-B+ severe combined immunodeficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP
JAK3, 1-BP INS, 1172G
JAK3, 151-BP DEL
JAK3, ASP169GLU
NM_000215.3(JAK3):c.1030C>A (p.Leu344Ile)
NM_000215.3(JAK3):c.105C>T (p.Pro35=) rs199988158
NM_000215.3(JAK3):c.1073T>G (p.Phe358Cys)
NM_000215.3(JAK3):c.1080C>T (p.Cys360=)
NM_000215.3(JAK3):c.108G>C (p.Gly36=) rs149701114
NM_000215.3(JAK3):c.1131C>T (p.His377=) rs55802448
NM_000215.3(JAK3):c.1142C>A (p.Thr381Asn) rs373046546
NM_000215.3(JAK3):c.114C>A (p.Pro38=) rs1448668382
NM_000215.3(JAK3):c.115del (p.Gln39fs)
NM_000215.3(JAK3):c.119G>A (p.Arg40His) rs56384680
NM_000215.3(JAK3):c.1269T>C (p.Pro423=) rs1555744931
NM_000215.3(JAK3):c.1333C>T (p.Arg445Ter) rs137852626
NM_000215.3(JAK3):c.141C>G (p.Asp47Glu)
NM_000215.3(JAK3):c.1442-5C>T rs3212750
NM_000215.3(JAK3):c.1471G>C (p.Gly491Arg) rs200112185
NM_000215.3(JAK3):c.1548C>T (p.Ile516=) rs144203232
NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer) rs1568404443
NM_000215.3(JAK3):c.1581G>A (p.Leu527=) rs3213408
NM_000215.3(JAK3):c.1622A>T (p.His541Leu)
NM_000215.3(JAK3):c.1631T>C (p.Val544Ala)
NM_000215.3(JAK3):c.1644C>T (p.Ala548=) rs764363104
NM_000215.3(JAK3):c.1678G>A (p.Ala560Thr)
NM_000215.3(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs)
NM_000215.3(JAK3):c.1695C>A (p.Cys565Ter) rs137852625
NM_000215.3(JAK3):c.1710G>A (p.Leu570=) rs3212755
NM_000215.3(JAK3):c.172_174del (p.Ala58del) rs137852627
NM_000215.3(JAK3):c.1837C>T (p.Arg613Ter)
NM_000215.3(JAK3):c.187A>G (p.Ile63Val) rs144405201
NM_000215.3(JAK3):c.1933C>T (p.His645Tyr) rs201479407
NM_000215.3(JAK3):c.1969C>T (p.Arg657Trp) rs1568403015
NM_000215.3(JAK3):c.1991C>T (p.Pro664Leu)
NM_000215.3(JAK3):c.1995C>T (p.Pro665=) rs3212768
NM_000215.3(JAK3):c.2062A>T (p.Ile688Phe) rs35785705
NM_000215.3(JAK3):c.2089C>T (p.Arg697Trp)
NM_000215.3(JAK3):c.2095G>T (p.Ala699Ser)
NM_000215.3(JAK3):c.2105T>C (p.Leu702Pro)
NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) rs146837396
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.2259C>T (p.Ala753=) rs35458530
NM_000215.3(JAK3):c.2262G>A (p.Leu754=) rs375857709
NM_000215.3(JAK3):c.2316C>A (p.Ala772=)
NM_000215.3(JAK3):c.23C>T (p.Thr8Met) rs145500023
NM_000215.3(JAK3):c.2451C>T (p.Phe817=) rs201576913
NM_000215.3(JAK3):c.2452G>A (p.Glu818Lys) rs374191135
NM_000215.3(JAK3):c.2491-3C>G rs1568401934
NM_000215.3(JAK3):c.2518C>T (p.Arg840Cys)
NM_000215.3(JAK3):c.2581G>A (p.Gly861Arg)
NM_000215.3(JAK3):c.2593C>G (p.Gln865Glu) rs749480147
NM_000215.3(JAK3):c.2609G>A (p.Arg870Gln)
NM_000215.3(JAK3):c.260_262TCT[1] (p.Phe88del) rs1568408091
NM_000215.3(JAK3):c.2619G>T (p.Gln873His)
NM_000215.3(JAK3):c.2625C>T (p.Leu875=) rs2230589
NM_000215.3(JAK3):c.2636A>G (p.His879Arg) rs3179893
NM_000215.3(JAK3):c.2660G>A (p.Arg887His)
NM_000215.3(JAK3):c.2680+3G>C rs749481781
NM_000215.3(JAK3):c.2756C>T (p.Ala919Val)
NM_000215.3(JAK3):c.2764G>A (p.Asp922Asn)
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.3(JAK3):c.28C>G (p.Leu10Val) rs1052019264
NM_000215.3(JAK3):c.297G>C (p.Leu99=) rs3212716
NM_000215.3(JAK3):c.2989G>T (p.Glu997Ter) rs1568400897
NM_000215.3(JAK3):c.299A>G (p.Tyr100Cys) rs137852624
NM_000215.3(JAK3):c.3213C>T (p.His1071=) rs757910571
NM_000215.3(JAK3):c.3300C>T (p.Ser1100=) rs201073968
NM_000215.3(JAK3):c.3356A>G (p.His1119Arg)
NM_000215.3(JAK3):c.3371C>T (p.Ser1124Leu)
NM_000215.3(JAK3):c.354C>T (p.Phe118=) rs751336782
NM_000215.3(JAK3):c.362G>A (p.Arg121His) rs143586866
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000215.3(JAK3):c.446G>C (p.Arg149Pro)
NM_000215.3(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000215.3(JAK3):c.478G>T (p.Gly160Cys)
NM_000215.3(JAK3):c.512C>T (p.Ala171Val)
NM_000215.3(JAK3):c.5C>T (p.Ala2Val) rs1568408509
NM_000215.3(JAK3):c.630G>A (p.Arg210=) rs201101011
NM_000215.3(JAK3):c.631A>C (p.Arg211=) rs56269787
NM_000215.3(JAK3):c.653G>T (p.Arg218Leu)
NM_000215.3(JAK3):c.696C>T (p.His232=) rs199902822
NM_000215.3(JAK3):c.81T>A (p.His27Gln) rs1039181282
NM_000215.3(JAK3):c.828C>A (p.Asp276Glu)
NM_000215.3(JAK3):c.[1796T>G;2125T>A]

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