ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.