ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_002185.5(IL7R):c.221+2T>G rs200044623 0.00002
NM_002185.5(IL7R):c.538-1G>A rs1315265916 0.00002
NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter) rs137852625 0.00001
NM_000732.6(CD3D):c.274+5G>A rs730880296 0.00001
NM_000732.6(CD3D):c.279C>A (p.Cys93Ter) rs111033581 0.00001
JAK3, 151-BP DEL
NM_000206.3(IL2RG):c.186T>A (p.Cys62Ter) rs111033619
NM_000206.3(IL2RG):c.341G>A (p.Gly114Asp) rs111033620
NM_000206.3(IL2RG):c.343T>C (p.Cys115Arg) rs111033622
NM_000206.3(IL2RG):c.355A>T (p.Lys119Ter) rs137852507
NM_000206.3(IL2RG):c.452T>C (p.Leu151Pro) rs137852511
NM_000206.3(IL2RG):c.454+1G>A rs1569480018
NM_000206.3(IL2RG):c.458T>A (p.Ile153Asn) rs111033621
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) rs111033618
NM_000206.3(IL2RG):c.703_711dup (p.Gln235_Trp237dup) rs587776729
NM_000206.3(IL2RG):c.854G>A (p.Arg285Gln) rs111033617
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter) rs137852508
NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln) rs137852510
NM_000206.3(IL2RG):c.923C>A (p.Ser308Ter) rs137852509
NM_000215.4(JAK3):c.1178dup (p.Ser394fs) rs2094235007
NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter) rs137852626
NM_000215.4(JAK3):c.172_174del (p.Ala58del) rs137852627
NM_000215.4(JAK3):c.299A>G (p.Tyr100Cys) rs137852624
NM_000215.4(JAK3):c.507C>A (p.Asp169Glu) rs147181709
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000733.4(CD3E):c.128_129del (p.Thr43fs) rs483352929
NM_000733.4(CD3E):c.176G>A (p.Trp59Ter) rs121918659
NM_000733.4(CD3E):c.520+2T>C rs483352928
NM_001014987.2(LAT):c.268_269del (p.Gly90fs) rs781410769
NM_001014987.2(LAT):c.44dup (p.Leu16fs) rs1555524788
NM_002185.5(IL7R):c.379G>A (p.Val127Ile) rs1759969389
NM_002185.5(IL7R):c.394C>T (p.Pro132Ser) rs104893894
NM_002185.5(IL7R):c.651G>A (p.Trp217Ter) rs104893893
NM_007074.4(CORO1A):c.1078del (p.Gln360fs) rs606231256
NM_007074.4(CORO1A):c.248_249del (p.Pro83fs) rs606231246
NM_007074.4(CORO1A):c.400G>A (p.Val134Met) rs397514755
NM_198053.3(CD247):c.208C>T (p.Gln70Ter) rs74315290
NM_198053.3(CD247):c.208_209inv (p.Gln70Trp)
NM_198053.3(CD247):c.208_210delinsTAT (p.Gln70Tyr) rs193922741
NM_198053.3(CD247):c.209A>T (p.Gln70Leu) rs193922740

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