ClinVar Miner

List of variants in gene CD3D reported as uncertain significance for Immunodeficiency 19

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000732.6(CD3D):c.52C>A (p.Gln18Lys) rs141902449 0.00084
NM_000732.4(CD3D):c.-128G>T rs200171722 0.00019
NM_000732.6(CD3D):c.274+4C>T rs201299420 0.00014
NM_000732.6(CD3D):c.450+6C>T rs193922617 0.00013
NM_000732.6(CD3D):c.55+5G>A rs138416327 0.00012
NM_000732.6(CD3D):c.510C>T (p.Asn170=) rs146997233 0.00008
NM_000732.6(CD3D):c.114T>A (p.Asn38Lys) rs193284900 0.00007
NM_000732.6(CD3D):c.152T>C (p.Leu51Pro) rs200037447 0.00007
NM_000732.6(CD3D):c.418C>A (p.Gln140Lys) rs201126605 0.00007
NM_000732.6(CD3D):c.-8G>A rs201539938 0.00006
NM_000732.6(CD3D):c.505C>T (p.Arg169Trp) rs367800432 0.00006
NM_000732.6(CD3D):c.-77G>A rs1006260323 0.00004
NM_000732.6(CD3D):c.235_237del (p.Tyr79del) rs763077739 0.00004
NM_000732.6(CD3D):c.416C>T (p.Thr139Ile) rs527584796 0.00004
NM_000732.6(CD3D):c.-44G>A rs886047739 0.00003
NM_000732.6(CD3D):c.386A>G (p.Glu129Gly) rs200132045 0.00003
NM_000732.6(CD3D):c.187C>T (p.Arg63Cys) rs149264725 0.00002
NM_000732.6(CD3D):c.262G>A (p.Val88Ile) rs200260087 0.00002
NM_000732.6(CD3D):c.67A>C (p.Lys23Gln) rs199969175 0.00002
NM_000732.6(CD3D):c.-46T>C rs886047740 0.00001
NM_000732.6(CD3D):c.-93C>T rs772705529 0.00001
NM_000732.6(CD3D):c.140C>T (p.Thr47Met) rs529884894 0.00001
NM_000732.6(CD3D):c.148A>T (p.Thr50Ser) rs1217732214 0.00001
NM_000732.6(CD3D):c.19C>T (p.Leu7Phe) rs1357653391 0.00001
NM_000732.6(CD3D):c.275T>C (p.Met92Thr) rs201266811 0.00001
NM_000732.6(CD3D):c.28C>G (p.Leu10Val) rs758632643 0.00001
NM_000732.6(CD3D):c.317G>A (p.Gly106Asp) rs996998665 0.00001
NM_000732.6(CD3D):c.343A>T (p.Thr115Ser) rs762023030 0.00001
NM_000732.6(CD3D):c.406+5G>A rs201527689 0.00001
NM_000732.6(CD3D):c.412G>A (p.Asp138Asn) rs547344580 0.00001
NM_000732.6(CD3D):c.435T>A (p.Asn145Lys) rs1170396966 0.00001
NM_000732.6(CD3D):c.440A>G (p.Gln147Arg) rs45510201 0.00001
NM_000732.6(CD3D):c.455T>C (p.Leu152Pro) rs1377972098 0.00001
NM_000732.6(CD3D):c.457C>T (p.Arg153Ter) rs201994476 0.00001
NM_000732.6(CD3D):c.463C>T (p.Arg155Ter) rs777721098 0.00001
NM_000732.6(CD3D):c.506G>A (p.Arg169Gln) rs200108243 0.00001
NM_000732.6(CD3D):c.76A>G (p.Ile26Val) rs201374139 0.00001
NM_000732.6(CD3D):c.77T>C (p.Ile26Thr) rs929117843 0.00001
NM_000732.6(CD3D):c.91G>A (p.Asp31Asn) rs1191172324 0.00001
NM_000732.6(CD3D):c.112A>G (p.Asn38Asp) rs1346172061
NM_000732.6(CD3D):c.11G>A (p.Ser4Asn)
NM_000732.6(CD3D):c.121A>G (p.Ile41Val) rs886047737
NM_000732.6(CD3D):c.126A>G (p.Thr42=) rs1948290662
NM_000732.6(CD3D):c.163A>C (p.Ile55Leu) rs1313114791
NM_000732.6(CD3D):c.167C>T (p.Thr56Ile) rs201422803
NM_000732.6(CD3D):c.174G>A (p.Leu58=)
NM_000732.6(CD3D):c.202C>G (p.Arg68Gly) rs111033580
NM_000732.6(CD3D):c.211T>C (p.Tyr71His) rs377725940
NM_000732.6(CD3D):c.233T>C (p.Ile78Thr)
NM_000732.6(CD3D):c.236A>G (p.Tyr79Cys)
NM_000732.6(CD3D):c.239A>G (p.Lys80Arg)
NM_000732.6(CD3D):c.244A>G (p.Lys82Glu) rs1555119773
NM_000732.6(CD3D):c.247G>A (p.Glu83Lys) rs201889742
NM_000732.6(CD3D):c.278G>A (p.Cys93Tyr) rs2134059424
NM_000732.6(CD3D):c.285C>A (p.Ser95Arg) rs1948285052
NM_000732.6(CD3D):c.343A>C (p.Thr115Pro)
NM_000732.6(CD3D):c.344C>A (p.Thr115Asn)
NM_000732.6(CD3D):c.356C>A (p.Ala119Asp) rs1948284280
NM_000732.6(CD3D):c.356C>T (p.Ala119Val) rs1948284280
NM_000732.6(CD3D):c.373T>C (p.Phe125Leu) rs554138504
NM_000732.6(CD3D):c.382C>A (p.His128Asn) rs534530743
NM_000732.6(CD3D):c.383A>T (p.His128Leu) rs2134059318
NM_000732.6(CD3D):c.403G>A (p.Gly135Arg) rs1948283623
NM_000732.6(CD3D):c.404G>A (p.Gly135Glu)
NM_000732.6(CD3D):c.407C>G (p.Ala136Gly)
NM_000732.6(CD3D):c.418C>G (p.Gln140Glu) rs201126605
NM_000732.6(CD3D):c.41C>G (p.Thr14Ser) rs200847716
NM_000732.6(CD3D):c.450+7G>T rs201810356
NM_000732.6(CD3D):c.457C>G (p.Arg153Gly) rs201994476
NM_000732.6(CD3D):c.458G>A (p.Arg153Gln)
NM_000732.6(CD3D):c.485A>T (p.His162Leu) rs1246867427
NM_000732.6(CD3D):c.491G>C (p.Gly164Ala) rs2134058517
NM_000732.6(CD3D):c.60C>G (p.Ser20Arg) rs529268621

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