ClinVar Miner

List of variants studied for Combined immunodeficiency due to CD3gamma deficiency by Illumina Laboratory Services, Illumina

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Total variants: 27
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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.79+10A>G rs115851096 0.00266
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.*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.*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.*617G>T rs1048944200 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.*363C>T rs1044606855 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.213del (p.Lys71fs) rs570768621
NM_000073.3(CD3G):c.243T>C (p.Pro81=) rs200028255

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