ClinVar Miner

List of variants in gene CD3E reported as likely 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: 129
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HGVS dbSNP gnomAD frequency
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.470C>T (p.Ala157Val) rs140639753 0.00083
NM_000733.4(CD3E):c.567+6G>A rs185185591 0.00061
NM_000733.4(CD3E):c.387G>A (p.Ser129=) rs200193595 0.00012
NM_000733.4(CD3E):c.353-18C>T rs201572053 0.00010
NM_000733.4(CD3E):c.462T>C (p.Asn154=) rs372144734 0.00009
NM_000733.4(CD3E):c.27T>G (p.Val9=) rs200915775 0.00008
NM_000733.4(CD3E):c.103+10T>C rs143015515 0.00007
NM_000733.4(CD3E):c.568-10T>G rs773328619 0.00006
NM_000733.4(CD3E):c.567+10G>T rs920180688 0.00004
NM_000733.4(CD3E):c.71-15C>T rs749389422 0.00004
NM_000733.4(CD3E):c.70+7T>C rs1344530532 0.00003
NM_000733.4(CD3E):c.85+17T>C rs201478021 0.00002
NM_000733.4(CD3E):c.104-16C>T rs747320277 0.00001
NM_000733.4(CD3E):c.297C>T (p.Tyr99=) rs143203193 0.00001
NM_000733.4(CD3E):c.324G>A (p.Ala108=) rs1313464574 0.00001
NM_000733.4(CD3E):c.353-11A>T rs199933802 0.00001
NM_000733.4(CD3E):c.353-13C>G rs1948148867 0.00001
NM_000733.4(CD3E):c.353-4A>C rs760176475 0.00001
NM_000733.4(CD3E):c.447C>T (p.Tyr149=) rs1302050891 0.00001
NM_000733.4(CD3E):c.480G>A (p.Lys160=) rs746750290 0.00001
NM_000733.4(CD3E):c.534G>A (p.Glu178=) rs948241853 0.00001
NM_000733.4(CD3E):c.579A>G (p.Lys193=) rs759238312 0.00001
NM_000733.4(CD3E):c.85+7A>T rs371830720 0.00001
NM_000733.4(CD3E):c.*410A>G rs201143285
NM_000733.4(CD3E):c.103+14T>A
NM_000733.4(CD3E):c.103+8T>C
NM_000733.4(CD3E):c.104-12C>A
NM_000733.4(CD3E):c.104-18T>C
NM_000733.4(CD3E):c.104-6C>T
NM_000733.4(CD3E):c.147C>T (p.Cys49=)
NM_000733.4(CD3E):c.15T>C (p.Thr5=)
NM_000733.4(CD3E):c.15T>G (p.Thr5=)
NM_000733.4(CD3E):c.171A>C (p.Ile57=)
NM_000733.4(CD3E):c.189T>C (p.Asp63=)
NM_000733.4(CD3E):c.201C>T (p.Gly67=)
NM_000733.4(CD3E):c.210G>A (p.Glu70=)
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000733.4(CD3E):c.234T>C (p.Asp78=)
NM_000733.4(CD3E):c.258A>G (p.Glu86=)
NM_000733.4(CD3E):c.268T>C (p.Leu90=)
NM_000733.4(CD3E):c.282T>G (p.Gly94=)
NM_000733.4(CD3E):c.285T>C (p.Tyr95=)
NM_000733.4(CD3E):c.288T>C (p.Tyr96=)
NM_000733.4(CD3E):c.30G>A (p.Leu10=)
NM_000733.4(CD3E):c.30G>T (p.Leu10=)
NM_000733.4(CD3E):c.324G>T (p.Ala108=)
NM_000733.4(CD3E):c.342G>C (p.Leu114=)
NM_000733.4(CD3E):c.352+14C>T
NM_000733.4(CD3E):c.352+9G>A rs1255695253
NM_000733.4(CD3E):c.353-11_353-7del
NM_000733.4(CD3E):c.353-12C>T
NM_000733.4(CD3E):c.353-15C>A
NM_000733.4(CD3E):c.353-15C>T
NM_000733.4(CD3E):c.353-4A>G
NM_000733.4(CD3E):c.353-4dup
NM_000733.4(CD3E):c.353-5C>A rs374456909
NM_000733.4(CD3E):c.353-5C>T rs374456909
NM_000733.4(CD3E):c.353-6C>A
NM_000733.4(CD3E):c.353-6C>G
NM_000733.4(CD3E):c.353-6C>T rs772687199
NM_000733.4(CD3E):c.353-9C>T
NM_000733.4(CD3E):c.360G>A (p.Glu120=)
NM_000733.4(CD3E):c.39C>T (p.Cys13=)
NM_000733.4(CD3E):c.417C>T (p.Cys139=)
NM_000733.4(CD3E):c.420C>T (p.Ile140=)
NM_000733.4(CD3E):c.429C>A (p.Gly143=)
NM_000733.4(CD3E):c.42C>T (p.Leu14=)
NM_000733.4(CD3E):c.435G>A (p.Leu145=)
NM_000733.4(CD3E):c.436C>T (p.Leu146=)
NM_000733.4(CD3E):c.468G>A (p.Lys156=)
NM_000733.4(CD3E):c.49+14A>G
NM_000733.4(CD3E):c.49+8G>A
NM_000733.4(CD3E):c.490C>A (p.Arg164=)
NM_000733.4(CD3E):c.495A>G (p.Gly165=) rs2134767983
NM_000733.4(CD3E):c.498G>C (p.Ala166=)
NM_000733.4(CD3E):c.50-10del
NM_000733.4(CD3E):c.50-17T>C
NM_000733.4(CD3E):c.50-4C>T
NM_000733.4(CD3E):c.50-7T>G
NM_000733.4(CD3E):c.504T>G (p.Ala168=)
NM_000733.4(CD3E):c.507C>A (p.Gly169=) rs2231447
NM_000733.4(CD3E):c.517A>C (p.Arg173=)
NM_000733.4(CD3E):c.51T>G (p.Val17=) rs1591267192
NM_000733.4(CD3E):c.520+10T>C
NM_000733.4(CD3E):c.520+17C>T
NM_000733.4(CD3E):c.520+19G>C
NM_000733.4(CD3E):c.520+20T>C
NM_000733.4(CD3E):c.521-10T>A
NM_000733.4(CD3E):c.521-13C>T
NM_000733.4(CD3E):c.521-19T>C
NM_000733.4(CD3E):c.521-4G>A
NM_000733.4(CD3E):c.521-4G>T
NM_000733.4(CD3E):c.521-5C>T
NM_000733.4(CD3E):c.521-9C>G
NM_000733.4(CD3E):c.521-9C>T
NM_000733.4(CD3E):c.567+12T>C rs1948154648
NM_000733.4(CD3E):c.567+14G>A rs1439294225
NM_000733.4(CD3E):c.567+18T>A
NM_000733.4(CD3E):c.567+7T>C
NM_000733.4(CD3E):c.567+8G>T
NM_000733.4(CD3E):c.568-11_568-10del rs764127460
NM_000733.4(CD3E):c.568-14T>C
NM_000733.4(CD3E):c.568-17_568-14del
NM_000733.4(CD3E):c.568-6C>G
NM_000733.4(CD3E):c.568-7C>A
NM_000733.4(CD3E):c.568-9C>T
NM_000733.4(CD3E):c.585G>A (p.Gln195=)
NM_000733.4(CD3E):c.586C>A (p.Arg196=)
NM_000733.4(CD3E):c.592C>T (p.Leu198=)
NM_000733.4(CD3E):c.603C>T (p.Gly201=) rs2134769949
NM_000733.4(CD3E):c.63G>A (p.Gly21=)
NM_000733.4(CD3E):c.70+10G>A
NM_000733.4(CD3E):c.70+11C>T
NM_000733.4(CD3E):c.70+11CTTT[3]
NM_000733.4(CD3E):c.70+14T>G
NM_000733.4(CD3E):c.70+15C>T
NM_000733.4(CD3E):c.71-10T>C
NM_000733.4(CD3E):c.71-11T>C
NM_000733.4(CD3E):c.71-17T>A
NM_000733.4(CD3E):c.71-8C>T
NM_000733.4(CD3E):c.85+13C>T
NM_000733.4(CD3E):c.85+16_85+24dup
NM_000733.4(CD3E):c.85+20A>C
NM_000733.4(CD3E):c.86-15T>C
NM_000733.4(CD3E):c.86-7T>C
NM_000733.4(CD3E):c.86-8A>G
NM_000733.4(CD3E):c.9G>A (p.Ser3=) rs776010793

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