ClinVar Miner

List of variants in gene CD3G, LOC126861358 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000073.3(CD3G):c.390T>C (p.Ala130=) rs3753059 0.16289
NM_000073.3(CD3G):c.391G>T (p.Val131Phe) rs3753058 0.16277
NM_000073.3(CD3G):c.439+11G>A rs187746068 0.00149
NM_000073.3(CD3G):c.158T>C (p.Ile53Thr) rs142915569 0.00148
NM_000073.3(CD3G):c.273G>C (p.Gln91His) rs141052321 0.00029
NM_000073.3(CD3G):c.122C>T (p.Ser41Leu) rs201752677 0.00010
NM_000073.3(CD3G):c.152A>G (p.Lys51Arg) rs145778395 0.00009
NM_000073.3(CD3G):c.307+13C>T rs201964905 0.00009
NM_000073.3(CD3G):c.439+12C>T rs200093444 0.00007
NM_000073.3(CD3G):c.308-13C>T rs200405767 0.00006
NM_000073.3(CD3G):c.205A>T (p.Lys69Ter) rs199676861 0.00003
NM_000073.3(CD3G):c.219T>C (p.Asn73=) rs777518839 0.00002
NM_000073.3(CD3G):c.308-4A>G rs201296802 0.00002
NM_000073.3(CD3G):c.114A>G (p.Glu38=) rs751425758 0.00001
NM_000073.3(CD3G):c.128T>C (p.Leu43Pro) rs1415147588 0.00001
NM_000073.3(CD3G):c.223G>A (p.Gly75Arg) rs1325306530 0.00001
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter) rs1948391148 0.00001
NM_000073.3(CD3G):c.294A>T (p.Gln98His) rs201795915 0.00001
NM_000073.3(CD3G):c.353T>C (p.Phe118Ser) rs781239764 0.00001
NM_000073.3(CD3G):c.381C>T (p.Phe127=) rs771971617 0.00001
NM_000073.3(CD3G):c.437G>C (p.Arg146Thr) rs916908630 0.00001
NM_000073.3(CD3G):c.80-17G>A rs1411479750 0.00001
NC_000011.10:g.118349744_118349760del rs483352927
NM_000073.3(CD3G):c.101A>G (p.Tyr34Cys) rs765027477
NM_000073.3(CD3G):c.109C>T (p.Gln37Ter)
NM_000073.3(CD3G):c.111A>G (p.Gln37=)
NM_000073.3(CD3G):c.122C>G (p.Ser41Trp) rs201752677
NM_000073.3(CD3G):c.123G>A (p.Ser41=) rs780567741
NM_000073.3(CD3G):c.136T>C (p.Cys46Arg)
NM_000073.3(CD3G):c.161C>T (p.Thr54Ile) rs2134069673
NM_000073.3(CD3G):c.162A>C (p.Thr54=)
NM_000073.3(CD3G):c.162A>G (p.Thr54=)
NM_000073.3(CD3G):c.163T>A (p.Trp55Arg) rs1948389355
NM_000073.3(CD3G):c.168T>G (p.Phe56Leu)
NM_000073.3(CD3G):c.170A>C (p.Lys57Thr) rs1555121379
NM_000073.3(CD3G):c.174T>A (p.Asp58Glu)
NM_000073.3(CD3G):c.174T>C (p.Asp58=)
NM_000073.3(CD3G):c.178A>T (p.Lys60Ter) rs2134069699
NM_000073.3(CD3G):c.187G>A (p.Gly63Ser) rs755334490
NM_000073.3(CD3G):c.189C>T (p.Gly63=) rs180793518
NM_000073.3(CD3G):c.192C>T (p.Phe64=)
NM_000073.3(CD3G):c.193C>T (p.Leu65=)
NM_000073.3(CD3G):c.213del (p.Lys71fs) rs570768621
NM_000073.3(CD3G):c.213dup (p.Trp72fs) rs570768621
NM_000073.3(CD3G):c.214T>A (p.Trp72Arg)
NM_000073.3(CD3G):c.231T>C (p.Asn77=) rs1267984932
NM_000073.3(CD3G):c.243T>C (p.Pro81=) rs200028255
NM_000073.3(CD3G):c.245G>A (p.Arg82Gln) rs758764358
NM_000073.3(CD3G):c.245G>C (p.Arg82Pro)
NM_000073.3(CD3G):c.259T>C (p.Cys87Arg) rs1215412653
NM_000073.3(CD3G):c.282A>G (p.Ser94=)
NM_000073.3(CD3G):c.307+18G>A rs1316251433
NM_000073.3(CD3G):c.307+9T>A
NM_000073.3(CD3G):c.308-10T>G rs2134070594
NM_000073.3(CD3G):c.308-13_308-6del rs1275882871
NM_000073.3(CD3G):c.308-9T>G rs2134070596
NM_000073.3(CD3G):c.326A>G (p.Glu109Gly) rs747479547
NM_000073.3(CD3G):c.338C>G (p.Ala113Gly)
NM_000073.3(CD3G):c.338C>T (p.Ala113Val) rs2134070662
NM_000073.3(CD3G):c.357_358del (p.Phe120fs)
NM_000073.3(CD3G):c.364G>A (p.Glu122Lys)
NM_000073.3(CD3G):c.368del (p.Ile123fs) rs2134070701
NM_000073.3(CD3G):c.386T>G (p.Leu129Arg)
NM_000073.3(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe) rs1591284990
NM_000073.3(CD3G):c.390_391delinsCT (p.Val131Phe) rs71469175
NM_000073.3(CD3G):c.393T>C (p.Val131=) rs2134070787
NM_000073.3(CD3G):c.80-10C>T
NM_000073.3(CD3G):c.80-18C>A
NM_000073.3(CD3G):c.80-18C>T rs771499584
NM_000073.3(CD3G):c.80-19A>G
NM_000073.3(CD3G):c.98T>C (p.Val33Ala)

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