ClinVar Miner

List of variants in gene CD3E reported as benign for T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000733.3(CD3E):c.-112G>A rs2231440 0.25571
NM_000733.4(CD3E):c.54C>T (p.Gly18=) rs1126924 0.25335
NM_000733.4(CD3E):c.*55C>A rs2231450 0.05808
NM_000733.4(CD3E):c.*48C>A rs2231449 0.02215
NM_000733.4(CD3E):c.104-17C>T rs2231443 0.00897
NM_000733.4(CD3E):c.507C>T (p.Gly169=) rs2231447 0.00816
NM_000733.4(CD3E):c.323C>T (p.Ala108Val) rs35299792 0.00427
NM_000733.4(CD3E):c.103C>T (p.Pro35Ser) rs143949187 0.00295
NM_000733.4(CD3E):c.498G>A (p.Ala166=) rs78373007 0.00262
NM_000733.4(CD3E):c.216T>C (p.Asp72=) rs2231444 0.00121
NM_000733.4(CD3E):c.85+16C>T rs200489032 0.00068
NM_000733.4(CD3E):c.408G>A (p.Val136=) rs143868906 0.00059
NM_000733.4(CD3E):c.441G>A (p.Leu147=) rs528492194 0.00006
NM_000733.4(CD3E):c.353-11A>T rs199933802 0.00001
NM_000733.4(CD3E):c.353-5del
NM_000733.4(CD3E):c.521-15del rs2134768659
NM_000733.4(CD3E):c.568-16T>G
NM_000733.4(CD3E):c.568-3dup
NM_000733.4(CD3E):c.86-10dup

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