ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000732.6(CD3D):c.451-18T>G rs2276424 0.61431
NM_000733.4(CD3E):c.54C>T (p.Gly18=) rs1126924 0.25335
NM_198053.3(CD247):c.219+16C>A rs12141641 0.10900
NM_198053.3(CD247):c.249C>T (p.Tyr83=) rs33937946 0.07227
NM_198053.3(CD247):c.246G>A (p.Glu82=) rs34940956 0.01978
NM_000732.6(CD3D):c.406+18G>A rs28606580 0.01380
NM_000733.4(CD3E):c.104-17C>T rs2231443 0.00897
NM_000733.4(CD3E):c.507C>T (p.Gly169=) rs2231447 0.00816
NM_198053.3(CD247):c.300+8T>A rs56199250 0.00577
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_198053.3(CD247):c.430-18G>A rs116757108 0.00086
NM_000733.4(CD3E):c.85+16C>T rs200489032 0.00068
NM_000733.4(CD3E):c.408G>A (p.Val136=) rs143868906 0.00059
NM_000732.6(CD3D):c.56-17T>C rs202077439 0.00047
NM_198053.3(CD247):c.337-7T>C rs36056000 0.00024
NM_198053.3(CD247):c.100C>T (p.Leu34=) rs181342622 0.00017
NM_000732.6(CD3D):c.510C>T (p.Asn170=) rs146997233 0.00008
NM_000733.4(CD3E):c.441G>A (p.Leu147=) rs528492194 0.00006
NM_000732.6(CD3D):c.275-18T>C rs200238286 0.00005
NM_198053.3(CD247):c.177A>G (p.Ala59=) rs373031213 0.00003
NM_198053.3(CD247):c.486C>T (p.Pro162=) rs190037664 0.00003
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
NM_198053.3(CD247):c.301-14G>A rs373120668

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