ClinVar Miner

List of variants in gene CD3D studied for T-B+ severe combined immunodeficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000732.4(CD3D):c.128G>A (p.Trp43Ter)
NM_000732.4(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000732.4(CD3D):c.211T>C (p.Tyr71His)
NM_000732.4(CD3D):c.244A>G (p.Lys82Glu) rs1555119773
NM_000732.4(CD3D):c.274+5G>A rs730880296
NM_000732.4(CD3D):c.274+8C>T rs1209300043
NM_000732.4(CD3D):c.279C>A (p.Cys93Ter) rs111033581
NM_000732.4(CD3D):c.418C>A (p.Gln140Lys) rs201126605
NM_000732.4(CD3D):c.440A>G (p.Gln147Arg)
NM_000732.4(CD3D):c.450+6C>T rs193922617
NM_000732.4(CD3D):c.457C>G (p.Arg153Gly)
NM_000732.4(CD3D):c.463C>T (p.Arg155Ter) rs777721098
NM_000732.4(CD3D):c.485A>T (p.His162Leu)
NM_000732.4(CD3D):c.52C>A (p.Gln18Lys) rs141902449
NM_000732.4(CD3D):c.60C>G (p.Ser20Arg)
NM_000732.4(CD3D):c.76A>G (p.Ile26Val) rs201374139

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