ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NC_000016.9:g.(?_30078199)_(30199917_?)del
NC_000016.9:g.(?_30078199)_(30200305_?)del
NC_000023.10:g.(?_70328127)_(70328196_?)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)
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+3delTG
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.903_910del (p.Glu302fs) rs1556329779
NM_000206.2(IL2RG):c.956_957AG[1] (p.Leu321fs)
NM_000215.3(JAK3):c.115del (p.Gln39fs)
NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer) rs1568404443
NM_000215.3(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs)
NM_000215.3(JAK3):c.1837C>T (p.Arg613Ter)
NM_000215.3(JAK3):c.2989G>T (p.Glu997Ter) rs1568400897
NM_000732.4(CD3D):c.128G>A (p.Trp43Ter)
NM_000732.4(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_001193333.2(CORO1A):c.670_673GTGC[1] (p.Arg225fs)
NM_007074.3(CORO1A):c.1078delC rs606231256
NM_198053.2(CD247):c.301C>T (p.Gln101Ter) rs55729925
NM_198053.2(CD247):c.51dup (p.Ile18fs) rs1553238837

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