ClinVar Miner

List of variants reported as benign for T-B+ severe combined immunodeficiency

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NM_000206.2(IL2RG):c.*290T>C rs763003140
NM_000206.2(IL2RG):c.325G>A (p.Glu109Lys) rs17875899
NM_000206.2(IL2RG):c.858G>A (p.Thr286=) rs148001866
NM_000206.2(IL2RG):c.92A>G (p.Asn31Ser) rs749977756
NM_000206.3(IL2RG):c.159C>T (p.Ser53=) rs762084352
NM_000206.3(IL2RG):c.201C>T (p.Val67=) rs756100347
NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu) rs775704953
NM_000206.3(IL2RG):c.282G>A (p.Ser94=) rs142807857
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr) rs778229878
NM_000206.3(IL2RG):c.396C>T (p.Leu132=) rs201840981
NM_000206.3(IL2RG):c.455-8A>G rs781649645
NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg) rs758693125
NM_000206.3(IL2RG):c.511G>C (p.Glu171Gln) rs763359860
NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp) rs200239526
NM_000206.3(IL2RG):c.786C>T (p.Ala262=) rs374370835
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) rs147424359
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met) rs375921454
NM_000206.3(IL2RG):c.87G>A (p.Thr29=) rs779772745
NM_000206.3(IL2RG):c.953C>T (p.Ala318Val) rs370007902
NM_000206.3(IL2RG):c.963G>A (p.Leu321=) rs181901993
NM_000215.3(JAK3):c.*1038A>G rs373917722
NM_000215.3(JAK3):c.*123T>C rs3008
NM_000215.3(JAK3):c.*1293C>T rs73014967
NM_000215.3(JAK3):c.*138G>C rs3212800
NM_000215.3(JAK3):c.*1422G>A rs79972191
NM_000215.3(JAK3):c.*1926A>G rs11888
NM_000215.3(JAK3):c.*252A>T rs79044512
NM_000215.3(JAK3):c.*36G>A rs3212799
NM_000215.3(JAK3):c.*448C>A rs3212802
NM_000215.3(JAK3):c.*654A>T rs71332114
NM_000215.3(JAK3):c.-36A>G rs7254346
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.1142+13C>A rs3212733
NM_000215.3(JAK3):c.1442-5C>T rs3212750
NM_000215.3(JAK3):c.1453C>T (p.Leu485=) rs55883965
NM_000215.3(JAK3):c.1548C>T (p.Ile516=) rs144203232
NM_000215.3(JAK3):c.1551T>A (p.Pro517=) rs143936463
NM_000215.3(JAK3):c.1710G>A (p.Leu570=) rs3212755
NM_000215.3(JAK3):c.1843C>T (p.Arg615Cys) rs200075643
NM_000215.3(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000215.3(JAK3):c.1995C>T (p.Pro665=) rs3212768
NM_000215.3(JAK3):c.2079C>T (p.Pro693=) rs145377049
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.2235G>A (p.Pro745=) rs149207170
NM_000215.3(JAK3):c.2259C>T (p.Ala753=) rs35458530
NM_000215.3(JAK3):c.2451C>T (p.Phe817=) rs201576913
NM_000215.3(JAK3):c.2625C>T (p.Leu875=) rs2230589
NM_000215.3(JAK3):c.2806-13C>T rs193156379
NM_000215.3(JAK3):c.297G>C (p.Leu99=) rs3212716
NM_000215.3(JAK3):c.3300C>T (p.Ser1100=) rs201073968
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000215.3(JAK3):c.631A>C (p.Arg211=) rs56269787
NM_000215.3(JAK3):c.696C>T (p.His232=) rs199902822
NM_000215.4(JAK3):c.*1319G>A
NM_000215.4(JAK3):c.1701+9A>G rs3212752
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000732.4(CD3D):c.*59C>T rs113271462
NM_000733.3(CD3E):c.*48C>A rs2231449
NM_000733.3(CD3E):c.*55C>A rs2231450
NM_000733.3(CD3E):c.-112G>A rs2231440
NM_000733.3(CD3E):c.103C>T (p.Pro35Ser) rs143949187
NM_000733.3(CD3E):c.216T>C (p.Asp72=) rs2231444
NM_000733.3(CD3E):c.323C>T (p.Ala108Val) rs35299792
NM_000733.3(CD3E):c.498G>A (p.Ala166=) rs78373007
NM_000733.3(CD3E):c.507C>T (p.Gly169=) rs2231447
NM_000733.4(CD3E):c.54C>T (p.Gly18=) rs1126924
NM_001193333.2(CORO1A):c.1065+9C>T rs117288362
NM_001193333.2(CORO1A):c.1097C>A (p.Pro366His) rs150857828
NM_001193333.2(CORO1A):c.1101C>T (p.Thr367=) rs139282852
NM_001193333.2(CORO1A):c.1189G>A (p.Val397Ile) rs35967690
NM_001193333.2(CORO1A):c.804C>T (p.Ser268=) rs149867063
NM_001193333.2(CORO1A):c.843C>T (p.Ile281=) rs199650298
NM_007074.4(CORO1A):c.1146T>C (p.Gly382=) rs201734831
NM_007074.4(CORO1A):c.451+8G>A rs112123877
NM_007074.4(CORO1A):c.738G>A (p.Gln246=) rs143729497
NM_198053.2(CD247):c.100C>T (p.Leu34=) rs181342622
NM_198053.2(CD247):c.177A>G (p.Ala59=) rs373031213
NM_198053.2(CD247):c.246G>A (p.Glu82=) rs34940956
NM_198053.2(CD247):c.249C>T (p.Tyr83=) rs33937946
NM_198053.2(CD247):c.300+8T>A rs56199250
NM_198053.2(CD247):c.337-7T>C rs36056000

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