ClinVar Miner

List of variants reported as benign for T-B+ severe combined immunodeficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_002185.5(IL7R):c.*1238A>T rs9292617 0.72701
NM_002185.5(IL7R):c.*1661G>A rs7716064 0.72649
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_002185.5(IL7R):c.*2339T>C rs6451231 0.72445
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_002185.5(IL7R):c.*917G>A rs10063294 0.58961
NM_000215.4(JAK3):c.*123T>C rs3008 0.52650
NM_000215.4(JAK3):c.*1926A>G rs11888 0.38087
NM_002185.5(IL7R):c.*3007A>G rs700179 0.31973
NM_002185.5(IL7R):c.*2841T>C rs1053496 0.31938
NM_002185.5(IL7R):c.*1326A>G rs10491434 0.31937
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val) rs3194051 0.28365
NM_000215.4(JAK3):c.*654A>T rs71332114 0.28246
NM_000733.3(CD3E):c.-112G>A rs2231440 0.25571
NM_000733.4(CD3E):c.54C>T (p.Gly18=) rs1126924 0.25335
NM_000215.4(JAK3):c.*448C>A rs3212802 0.25138
NM_002185.5(IL7R):c.*2507C>T rs6881270 0.24668
NM_000215.4(JAK3):c.-36A>G rs7254346 0.22842
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932 0.21045
NM_000215.4(JAK3):c.*1293C>T rs73014967 0.17398
NM_002185.5(IL7R):c.*3015A>G rs1862632 0.13303
NM_002185.5(IL7R):c.495C>T (p.His165=) rs2228141 0.13289
NM_002185.5(IL7R):c.*1552G>A rs10053847 0.13273
NM_002185.5(IL7R):c.*2547G>A rs13167136 0.13265
NM_002185.5(IL7R):c.*1924G>A rs9292618 0.13252
NM_000215.4(JAK3):c.1701+9A>G rs3212752 0.12273
NM_000733.4(CD3E):c.*55C>A rs2231450 0.05808
NM_002185.5(IL7R):c.*2995G>A rs72742450 0.04632
NM_002185.5(IL7R):c.538-14A>C rs11567763 0.03352
NM_000215.4(JAK3):c.297G>C (p.Leu99=) rs3212716 0.02446
NM_002185.5(IL7R):c.*1171G>A rs16902514 0.02323
NM_000733.4(CD3E):c.*48C>A rs2231449 0.02215
NM_000215.4(JAK3):c.*36G>A rs3212799 0.01948
NM_002185.5(IL7R):c.*2454T>A rs6862072 0.01568
NM_000215.4(JAK3):c.*1319G>A rs118101939 0.01432
NM_002185.5(IL7R):c.*1619G>T rs113174267 0.01386
NM_002185.5(IL7R):c.*1508G>C rs111740630 0.01383
NM_000215.4(JAK3):c.*1422G>A rs79972191 0.01316
NM_002185.5(IL7R):c.*2750C>G rs6885455 0.01076
NM_002185.5(IL7R):c.*508A>G rs74625608 0.01051
NM_000215.4(JAK3):c.2259C>T (p.Ala753=) rs35458530 0.01034
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NM_000733.4(CD3E):c.507C>T (p.Gly169=) rs2231447 0.00816
NM_000215.4(JAK3):c.1442-5C>T rs3212750 0.00758
NM_002185.5(IL7R):c.*1902C>T rs187393408 0.00754
NM_000732.6(CD3D):c.*59C>T rs113271462 0.00716
NM_002185.5(IL7R):c.*42A>G rs145513117 0.00647
NM_000215.4(JAK3):c.2806-13C>T rs193156379 0.00498
NM_000215.4(JAK3):c.*252A>T rs79044512 0.00470
NM_002185.5(IL7R):c.*2898G>A rs76863142 0.00469
NM_002185.5(IL7R):c.*453G>T rs79286909 0.00464
NM_002185.5(IL7R):c.1241C>T (p.Thr414Met) rs2229232 0.00456
NM_000733.4(CD3E):c.323C>T (p.Ala108Val) rs35299792 0.00427
NM_000215.4(JAK3):c.1548C>T (p.Ile516=) rs144203232 0.00372
NM_000206.3(IL2RG):c.858G>A (p.Thr286=) rs148001866 0.00189
NM_000733.4(CD3E):c.216T>C (p.Asp72=) rs2231444 0.00121
NM_002185.5(IL7R):c.*2165C>T rs76614394 0.00119
NM_000215.4(JAK3):c.*1038A>G rs373917722 0.00104
NM_000215.4(JAK3):c.1131C>T (p.His377=) rs55802448 0.00098
NM_002185.5(IL7R):c.*830A>C rs11567769 0.00063
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_000215.4(JAK3):c.1453C>T (p.Leu485=) rs55883965 0.00035
NM_002185.5(IL7R):c.153G>A (p.Ser51=) rs149235072 0.00035
NM_000206.3(IL2RG):c.92A>G (p.Asn31Ser) rs749977756 0.00007
NM_000206.3(IL2RG):c.*290T>C rs763003140
NM_000215.4(JAK3):c.*138G>C rs3212800
NM_000215.4(JAK3):c.1142+13C>A rs3212733
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_002185.5(IL7R):c.*1253G>A rs10491435
NM_002185.5(IL7R):c.*1253G>T rs10491435
NM_002185.5(IL7R):c.*2568G>T rs6881706
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr) rs41270321
NM_002185.5(IL7R):c.1092T>G (p.Asp364Glu) rs201216012

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