ClinVar Miner

List of variants reported as likely benign for Combined immunodeficiency due to CD3gamma deficiency

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000073.3(CD3G):c.158T>C (p.Ile53Thr) rs142915569 0.00148
NM_000073.3(CD3G):c.56G>A (p.Gly19Asp) rs146393315 0.00075
NM_000073.3(CD3G):c.511T>C (p.Tyr171His) rs148191859 0.00024
NM_000073.3(CD3G):c.36G>A (p.Leu12=) rs181713283 0.00015
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.56-17C>A rs201370125 0.00004
NM_000073.3(CD3G):c.219T>C (p.Asn73=) rs777518839 0.00002
NM_000073.3(CD3G):c.114A>G (p.Glu38=) rs751425758 0.00001
NM_000073.3(CD3G):c.381C>T (p.Phe127=) rs771971617 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
NM_000073.3(CD3G):c.111A>G (p.Gln37=)
NM_000073.3(CD3G):c.123G>A (p.Ser41=) rs780567741
NM_000073.3(CD3G):c.12G>A (p.Gly4=)
NM_000073.3(CD3G):c.162A>C (p.Thr54=)
NM_000073.3(CD3G):c.162A>G (p.Thr54=)
NM_000073.3(CD3G):c.174T>C (p.Asp58=)
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.231T>C (p.Asn77=) rs1267984932
NM_000073.3(CD3G):c.243T>C (p.Pro81=) rs200028255
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.308-9T>G rs2134070596
NM_000073.3(CD3G):c.393T>C (p.Val131=) rs2134070787
NM_000073.3(CD3G):c.440-19_440-18del rs1322603987
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.55+11A>G
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.72A>T (p.Ser24=) rs768284919
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

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