ClinVar Miner

List of variants in gene CD3D studied for Immunodeficiency 19

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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_000732.6(CD3D):c.451-18T>G rs2276424 0.61431
NM_000732.6(CD3D):c.406+18G>A rs28606580 0.01380
NM_000732.6(CD3D):c.*59C>T rs113271462 0.00716
NM_000732.6(CD3D):c.52C>A (p.Gln18Lys) rs141902449 0.00084
NM_000732.6(CD3D):c.56-17T>C rs202077439 0.00047
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.342C>T (p.Ala114=) rs201721807 0.00008
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.30G>T (p.Leu10=) rs202080099 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.202C>A (p.Arg68=) rs111033580 0.00006
NM_000732.6(CD3D):c.360G>A (p.Leu120=) rs150570955 0.00006
NM_000732.6(CD3D):c.505C>T (p.Arg169Trp) rs367800432 0.00006
NM_000732.6(CD3D):c.55+12C>A rs1379953201 0.00006
NM_000732.6(CD3D):c.275-18T>C rs200238286 0.00005
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.274+8C>T rs1209300043 0.00003
NM_000732.6(CD3D):c.275-5C>T rs188697778 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.411C>T (p.Ala137=) rs200520638 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.255C>T (p.Thr85=) rs200910273 0.00001
NM_000732.6(CD3D):c.274+5G>A rs730880296 0.00001
NM_000732.6(CD3D):c.275T>C (p.Met92Thr) rs201266811 0.00001
NM_000732.6(CD3D):c.279C>A (p.Cys93Ter) rs111033581 0.00001
NM_000732.6(CD3D):c.28C>G (p.Leu10Val) rs758632643 0.00001
NM_000732.6(CD3D):c.309C>T (p.Thr103=) rs777386322 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.407-2A>G rs1341165259 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.450+19G>A rs779545897 0.00001
NM_000732.6(CD3D):c.450+8T>C rs768378803 0.00001
NM_000732.6(CD3D):c.453C>T (p.Pro151=) rs745794915 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.81G>A (p.Glu27=) rs144504840 0.00001
NM_000732.6(CD3D):c.91G>A (p.Asp31Asn) rs1191172324 0.00001
NM_000732.6(CD3D):c.108T>C (p.Asn36=)
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.128G>A (p.Trp43Ter) rs1591278347
NM_000732.6(CD3D):c.138A>C (p.Gly46=)
NM_000732.6(CD3D):c.141G>A (p.Thr47=)
NM_000732.6(CD3D):c.156C>G (p.Leu52=) rs751800253
NM_000732.6(CD3D):c.159A>T (p.Ser53=)
NM_000732.6(CD3D):c.15G>A (p.Thr5=) rs747917280
NM_000732.6(CD3D):c.15del (p.Leu7fs)
NM_000732.6(CD3D):c.162C>T (p.Asp54=)
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.172C>T (p.Leu58=) rs2134059883
NM_000732.6(CD3D):c.174G>A (p.Leu58=)
NM_000732.6(CD3D):c.189C>T (p.Arg63=) rs1948289777
NM_000732.6(CD3D):c.18dup (p.Leu7fs)
NM_000732.6(CD3D):c.202C>G (p.Arg68Gly) rs111033580
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000732.6(CD3D):c.211T>C (p.Tyr71His) rs377725940
NM_000732.6(CD3D):c.213T>C (p.Tyr71=)
NM_000732.6(CD3D):c.222T>C (p.Asn74=)
NM_000732.6(CD3D):c.225G>A (p.Gly75=)
NM_000732.6(CD3D):c.233T>C (p.Ile78Thr)
NM_000732.6(CD3D):c.236A>G (p.Tyr79Cys)
NM_000732.6(CD3D):c.237C>G (p.Tyr79Ter)
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.271C>T (p.Arg91Ter)
NM_000732.6(CD3D):c.274+15A>G
NM_000732.6(CD3D):c.274+16A>G
NM_000732.6(CD3D):c.274+18C>A
NM_000732.6(CD3D):c.274+20T>G
NM_000732.6(CD3D):c.274+2T>C
NM_000732.6(CD3D):c.275-13C>T
NM_000732.6(CD3D):c.275-19C>T
NM_000732.6(CD3D):c.275-9C>G
NM_000732.6(CD3D):c.275-9C>T
NM_000732.6(CD3D):c.278G>A (p.Cys93Tyr) rs2134059424
NM_000732.6(CD3D):c.27C>T (p.Gly9=)
NM_000732.6(CD3D):c.285C>A (p.Ser95Arg) rs1948285052
NM_000732.6(CD3D):c.300T>C (p.Asp100=)
NM_000732.6(CD3D):c.303A>G (p.Pro101=)
NM_000732.6(CD3D):c.30G>A (p.Leu10=)
NM_000732.6(CD3D):c.327C>T (p.Val109=)
NM_000732.6(CD3D):c.343A>C (p.Thr115Pro)
NM_000732.6(CD3D):c.344C>A (p.Thr115Asn)
NM_000732.6(CD3D):c.346C>T (p.Leu116=)
NM_000732.6(CD3D):c.351C>T (p.Leu117=)
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.378T>C (p.Ala126=) rs1237318986
NM_000732.6(CD3D):c.381A>C (p.Gly127=)
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.384T>C (p.His128=)
NM_000732.6(CD3D):c.396G>A (p.Arg132=)
NM_000732.6(CD3D):c.399G>C (p.Leu133=)
NM_000732.6(CD3D):c.403G>A (p.Gly135Arg) rs1948283623
NM_000732.6(CD3D):c.404G>A (p.Gly135Glu)
NM_000732.6(CD3D):c.406+12A>G
NM_000732.6(CD3D):c.406+14C>A
NM_000732.6(CD3D):c.406+14C>T
NM_000732.6(CD3D):c.406+1G>T
NM_000732.6(CD3D):c.406+7G>A
NM_000732.6(CD3D):c.407-10G>A
NM_000732.6(CD3D):c.407-10G>T
NM_000732.6(CD3D):c.407-13C>G
NM_000732.6(CD3D):c.407-15C>T rs2134058903
NM_000732.6(CD3D):c.407-17C>T
NM_000732.6(CD3D):c.407-18T>C
NM_000732.6(CD3D):c.407-19CT[3]
NM_000732.6(CD3D):c.407-1G>A rs2134058885
NM_000732.6(CD3D):c.407-7C>T
NM_000732.6(CD3D):c.407C>G (p.Ala136Gly)
NM_000732.6(CD3D):c.40_41dup (p.Leu15fs)
NM_000732.6(CD3D):c.411C>A (p.Ala137=)
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.430A>C (p.Arg144=)
NM_000732.6(CD3D):c.444C>G (p.Val148=)
NM_000732.6(CD3D):c.450+14G>T rs768322685
NM_000732.6(CD3D):c.450+18G>A
NM_000732.6(CD3D):c.450+7G>A
NM_000732.6(CD3D):c.450+7G>T rs201810356
NM_000732.6(CD3D):c.451-12C>T
NM_000732.6(CD3D):c.451-15C>T rs2134058621
NM_000732.6(CD3D):c.451-18T>C
NM_000732.6(CD3D):c.451-7C>G
NM_000732.6(CD3D):c.451-8T>C
NM_000732.6(CD3D):c.451-9C>T
NM_000732.6(CD3D):c.451-9_451-7del rs758585177
NM_000732.6(CD3D):c.457C>G (p.Arg153Gly) rs201994476
NM_000732.6(CD3D):c.458G>A (p.Arg153Gln)
NM_000732.6(CD3D):c.465A>C (p.Arg155=)
NM_000732.6(CD3D):c.477G>A (p.Gln159=)
NM_000732.6(CD3D):c.480C>T (p.Tyr160=)
NM_000732.6(CD3D):c.485A>T (p.His162Leu) rs1246867427
NM_000732.6(CD3D):c.486C>T (p.His162=)
NM_000732.6(CD3D):c.48C>T (p.Leu16=)
NM_000732.6(CD3D):c.491G>C (p.Gly164Ala) rs2134058517
NM_000732.6(CD3D):c.51G>A (p.Ser17=)
NM_000732.6(CD3D):c.51G>C (p.Ser17=)
NM_000732.6(CD3D):c.51G>T (p.Ser17=) rs371909040
NM_000732.6(CD3D):c.51_52del (p.Gln18fs) rs1180673589
NM_000732.6(CD3D):c.55+16G>A
NM_000732.6(CD3D):c.55+20G>A
NM_000732.6(CD3D):c.55+20G>C
NM_000732.6(CD3D):c.55+20del
NM_000732.6(CD3D):c.55+8T>G
NM_000732.6(CD3D):c.56-10del rs1264668031
NM_000732.6(CD3D):c.56-15T>C
NM_000732.6(CD3D):c.56-16A>G
NM_000732.6(CD3D):c.56-7C>T rs2134060049
NM_000732.6(CD3D):c.60C>G (p.Ser20Arg) rs529268621
NM_000732.6(CD3D):c.84A>G (p.Glu28=)
NM_000732.6(CD3D):c.9_10del (p.His3fs)

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