ClinVar Miner

List of variants studied for Combined immunodeficiency due to CD3gamma deficiency

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Total variants: 140
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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.*244A>G rs45508093 0.12672
NM_000073.3(CD3G):c.*308G>A rs73018291 0.02465
NM_000073.3(CD3G):c.64G>A (p.Ala22Thr) rs139781104 0.00294
NM_000073.3(CD3G):c.79+10A>G rs115851096 0.00266
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.-17G>T rs145293635 0.00124
NM_000073.3(CD3G):c.56G>A (p.Gly19Asp) rs146393315 0.00075
NM_000073.3(CD3G):c.33C>G (p.Ile11Met) rs143990986 0.00063
NM_000073.3(CD3G):c.*551C>T rs45614033 0.00040
NM_000073.3(CD3G):c.273G>C (p.Gln91His) rs141052321 0.00029
NM_000073.3(CD3G):c.*216C>A rs200727417 0.00025
NM_000073.3(CD3G):c.511T>C (p.Tyr171His) rs148191859 0.00024
NM_000073.3(CD3G):c.496C>A (p.Arg166=) rs201529449 0.00022
NM_000073.3(CD3G):c.36G>A (p.Leu12=) rs181713283 0.00015
NM_000073.3(CD3G):c.*141G>A rs199668856 0.00013
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.*500G>A rs886047743 0.00008
NM_000073.3(CD3G):c.32T>C (p.Ile11Thr) rs201006956 0.00007
NM_000073.3(CD3G):c.439+12C>T rs200093444 0.00007
NM_000073.3(CD3G):c.*112C>T rs201272612 0.00006
NM_000073.3(CD3G):c.*253G>A rs200106650 0.00006
NM_000073.3(CD3G):c.308-13C>T rs200405767 0.00006
NM_000073.3(CD3G):c.40A>G (p.Ile14Val) rs377262966 0.00004
NM_000073.3(CD3G):c.56-17C>A rs201370125 0.00004
NM_000073.3(CD3G):c.205A>T (p.Lys69Ter) rs199676861 0.00003
NM_000073.3(CD3G):c.497G>A (p.Arg166Gln) rs764084817 0.00003
NM_000073.3(CD3G):c.*617G>T rs1048944200 0.00002
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.467A>G (p.Asn156Ser) rs772803529 0.00002
NM_000073.3(CD3G):c.484C>A (p.Pro162Thr) rs200624053 0.00002
NM_000073.3(CD3G):c.521T>C (p.Leu174Pro) rs200685479 0.00002
NM_000073.3(CD3G):c.79+4G>A rs1226309530 0.00002
NM_000073.3(CD3G):c.*363C>T rs1044606855 0.00001
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.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.458T>C (p.Leu153Pro) rs1948410884 0.00001
NM_000073.3(CD3G):c.55+14A>G rs1221658161 0.00001
NM_000073.3(CD3G):c.55+16G>A rs768957947 0.00001
NM_000073.3(CD3G):c.55+8C>T rs1342882807 0.00001
NM_000073.3(CD3G):c.72A>C (p.Ser24=) rs768284919 0.00001
NM_000073.3(CD3G):c.80-17G>A rs1411479750 0.00001
NC_000011.10:g.118349744_118349760del rs483352927
NC_000011.9:g.(?_116691583)_(121500272_?)dup
NC_000011.9:g.(?_117856768)_(118972385_?)del
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000011.9:g.(?_118209877)_(118219785_?)dup
NM_000073.3(CD3G):c.*426T>G rs199632748
NM_000073.3(CD3G):c.*450T>G rs200498090
NM_000073.3(CD3G):c.*453G>T rs45477194
NM_000073.3(CD3G):c.*650C>T rs201175995
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.11G>T (p.Gly4Val) rs1483357286
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.12G>A (p.Gly4=)
NM_000073.3(CD3G):c.136T>C (p.Cys46Arg)
NM_000073.3(CD3G):c.13A>T (p.Lys5Ter) rs1948335884
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.16G>C (p.Gly6Arg) rs1481255896
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.1A>G (p.Met1Val) rs104894199
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.37G>A (p.Ala13Thr) rs1948336348
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.38C>T (p.Ala13Val) rs1430979560
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.41T>A (p.Ile14Asn) rs1948336501
NM_000073.3(CD3G):c.440-19_440-18del rs1322603987
NM_000073.3(CD3G):c.440-7del rs747939880
NM_000073.3(CD3G):c.466A>C (p.Asn156His) rs1948410922
NM_000073.3(CD3G):c.484-13C>T
NM_000073.3(CD3G):c.484-17T>A
NM_000073.3(CD3G):c.484-4C>A rs1565523004
NM_000073.3(CD3G):c.484-4C>G rs1565523004
NM_000073.3(CD3G):c.496C>T (p.Arg166Ter) rs201529449
NM_000073.3(CD3G):c.513C>G (p.Tyr171Ter)
NM_000073.3(CD3G):c.529A>G (p.Asn177Asp) rs2134072775
NM_000073.3(CD3G):c.55+11A>G
NM_000073.3(CD3G):c.55+11_55+23delinsGGCTATCATTCTTCTTCAAGGTAAGGGCCTTC
NM_000073.3(CD3G):c.55+12C>G
NM_000073.3(CD3G):c.55+15G>A
NM_000073.3(CD3G):c.55+19T>C
NM_000073.3(CD3G):c.56-17C>T rs201370125
NM_000073.3(CD3G):c.56-5T>C rs1248241886
NM_000073.3(CD3G):c.69G>A (p.Gln23=) rs2134068299
NM_000073.3(CD3G):c.70_79+5del
NM_000073.3(CD3G):c.71C>G (p.Ser24Ter) rs2134068305
NM_000073.3(CD3G):c.72A>T (p.Ser24=) rs768284919
NM_000073.3(CD3G):c.79+3A>G rs1948381958
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)
NM_000073.3:c.70_80del

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