ClinVar Miner

List of variants studied for T-B+ severe combined immunodeficiency by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
IL2RG, ARG267TER
JAK3, 1-BP INS, 1172G
JAK3, 151-BP DEL
JAK3, ASP169GLU
NM_000206.2(IL2RG):c.186T>A (p.Cys62Ter) rs111033619
NM_000206.2(IL2RG):c.341G>A (p.Gly114Asp) rs111033620
NM_000206.2(IL2RG):c.343T>C (p.Cys115Arg) rs111033622
NM_000206.2(IL2RG):c.355A>T (p.Lys119Ter) rs137852507
NM_000206.2(IL2RG):c.452T>C (p.Leu151Pro) rs137852511
NM_000206.2(IL2RG):c.454+1G>A rs1569480018
NM_000206.2(IL2RG):c.458T>A (p.Ile153Asn) rs111033621
NM_000206.2(IL2RG):c.703_711dup (p.Gln235_Trp237dup) rs587776729
NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln) rs111033617
NM_000206.2(IL2RG):c.923C>A (p.Ser308Ter) rs137852509
NM_000215.3(JAK3):c.1333C>T (p.Arg445Ter) rs137852626
NM_000215.3(JAK3):c.1695C>A (p.Cys565Ter) rs137852625
NM_000215.3(JAK3):c.172_174del (p.Ala58del) rs137852627
NM_000215.3(JAK3):c.299A>G (p.Tyr100Cys) rs137852624
NM_000732.4(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000732.4(CD3D):c.274+5G>A rs730880296
NM_000732.4(CD3D):c.279C>A (p.Cys93Ter) rs111033581
NM_000733.3(CD3E):c.176G>A (p.Trp59Ter) rs121918659
NM_000733.3(CD3E):c.520+2T>C rs483352928
NM_001193333.2(CORO1A):c.400G>A (p.Val134Met) rs397514755
NM_007074.3(CORO1A):c.1078delC rs606231256
NM_007074.3(CORO1A):c.248_249del rs606231246
NM_014387.4(LAT):c.268_269del (p.Gly90fs) rs781410769
NM_014387.4(LAT):c.44dup (p.Leu16fs) rs1555524788
NM_198053.2(CD247):c.208C>T (p.Gln70Ter) rs74315290
NM_198053.2(CD247):c.208_209inv (p.Gln70Trp) rs193922739
NM_198053.2(CD247):c.208_210delinsTAT (p.Gln70Tyr) rs193922741
NM_198053.2(CD247):c.209A>T (p.Gln70Leu) rs193922740

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