List of variants in gene CD3G reported as likely benign for combined immunodeficiency due to CD3gamma deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.56-17C>A	rs201370125	0.00004
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.12G>A (p.Gly4=)
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

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.