ClinVar Miner

List of variants in gene CD3G studied for combined immunodeficiency due to CD3gamma deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
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.-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.*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.*500G>A rs886047743 0.00008
NM_000073.3(CD3G):c.32T>C (p.Ile11Thr) rs201006956 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.40A>G (p.Ile14Val) rs377262966 0.00004
NM_000073.3(CD3G):c.56-17C>A rs201370125 0.00004
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.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.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.*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.11G>T (p.Gly4Val) rs1483357286
NM_000073.3(CD3G):c.12G>A (p.Gly4=)
NM_000073.3(CD3G):c.13A>T (p.Lys5Ter) rs1948335884
NM_000073.3(CD3G):c.16G>C (p.Gly6Arg) rs1481255896
NM_000073.3(CD3G):c.1A>G (p.Met1Val) rs104894199
NM_000073.3(CD3G):c.37G>A (p.Ala13Thr) rs1948336348
NM_000073.3(CD3G):c.38C>T (p.Ala13Val) rs1430979560
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:c.70_80del

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