ClinVar Miner

List of variants reported as uncertain significance for Combined immunodeficiency due to CD3gamma deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000073.3(CD3G):c.33C>G (p.Ile11Met) rs143990986 0.00063
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.32T>C (p.Ile11Thr) rs201006956 0.00007
NM_000073.3(CD3G):c.40A>G (p.Ile14Val) rs377262966 0.00004
NM_000073.3(CD3G):c.497G>A (p.Arg166Gln) rs764084817 0.00003
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.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.437G>C (p.Arg146Thr) rs916908630 0.00001
NM_000073.3(CD3G):c.458T>C (p.Leu153Pro) rs1948410884 0.00001
NC_000011.9:g.(?_116691583)_(121500272_?)dup
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000011.9:g.(?_118209877)_(118219785_?)dup
NM_000073.3(CD3G):c.101A>G (p.Tyr34Cys) rs765027477
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.136T>C (p.Cys46Arg)
NM_000073.3(CD3G):c.161C>T (p.Thr54Ile) rs2134069673
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.187G>A (p.Gly63Ser) rs755334490
NM_000073.3(CD3G):c.214T>A (p.Trp72Arg)
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.308-13_308-6del rs1275882871
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.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.41T>A (p.Ile14Asn) rs1948336501
NM_000073.3(CD3G):c.466A>C (p.Asn156His) rs1948410922
NM_000073.3(CD3G):c.529A>G (p.Asn177Asp) rs2134072775
NM_000073.3(CD3G):c.55+11_55+23delinsGGCTATCATTCTTCTTCAAGGTAAGGGCCTTC
NM_000073.3(CD3G):c.79+3A>G rs1948381958
NM_000073.3(CD3G):c.98T>C (p.Val33Ala)

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