ClinVar Miner

List of variants reported as pathogenic for T-B+ severe combined immunodeficiency by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NC_000011.9:g.(?_117856768)_(118972385_?)del
NC_000016.10:g.(?_30066878)_(30188596_?)del
NC_000016.10:g.(?_30066878)_(30188984_?)del
NC_000023.11:g.(?_71108277)_(71108346_?)del
NM_000206.2(IL2RG):c.100G>T (p.Glu34Ter) rs1556331272
NM_000206.2(IL2RG):c.270-15A>G rs886039387
NM_000206.2(IL2RG):c.270G>A (p.Trp90Ter) rs1569480047
NM_000206.2(IL2RG):c.430C>T (p.Gln144Ter) rs1602289411
NM_000206.2(IL2RG):c.522G>A (p.Trp174Ter) rs1556330568
NM_000206.2(IL2RG):c.548del (p.Leu183fs) rs1556330562
NM_000206.2(IL2RG):c.562C>T (p.Gln188Ter) rs1556330552
NM_000206.2(IL2RG):c.594+2_594+3del rs1602289183
NM_000206.2(IL2RG):c.602C>G (p.Ser201Ter) rs1556330286
NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000206.2(IL2RG):c.677G>A (p.Arg226His) rs869320660
NM_000206.2(IL2RG):c.720G>A (p.Trp240Ter) rs1556330234
NM_000206.2(IL2RG):c.758-1G>A rs886042051
NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln) rs111033617
NM_000206.2(IL2RG):c.878T>A (p.Leu293Gln) rs137852510
NM_000206.2(IL2RG):c.903_910del (p.Glu302fs) rs1556329779
NM_000206.2(IL2RG):c.956_957AG[1] (p.Leu321fs) rs1602288051
NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs)
NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter)
NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer) rs1602289631
NM_000206.3(IL2RG):c.294del (p.Val99fs)
NM_000206.3(IL2RG):c.455-2A>C
NM_000206.3(IL2RG):c.550G>T (p.Glu184Ter)
NM_000206.3(IL2RG):c.603_604del (p.Val202fs)
NM_000215.3(JAK3):c.115del (p.Gln39fs) rs755706305
NM_000215.3(JAK3):c.1351C>T (p.Arg451Ter)
NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer) rs1568404443
NM_000215.3(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs) rs1599873591
NM_000215.3(JAK3):c.1837C>T (p.Arg613Ter) rs149316157
NM_000215.3(JAK3):c.2989G>T (p.Glu997Ter) rs1568400897
NM_000732.4(CD3D):c.128G>A (p.Trp43Ter) rs1591278347
NM_000732.4(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000733.4(CD3E):c.261_262del (p.Ser88fs)
NM_000733.4(CD3E):c.490C>T (p.Arg164Ter)
NM_000734.4(CD247):c.51dup (p.Ile18fs) rs1553238837
NM_001193333.2(CORO1A):c.670_673GTGC[1] (p.Arg225fs) rs1213680890
NM_007074.3(CORO1A):c.1078delC rs606231256
NM_198053.2(CD247):c.301C>T (p.Gln101Ter) rs55729925

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