ClinVar Miner

List of variants 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:
ClinVar version:
Total variants: 286
Download table as spreadsheet
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_000732.6(CD3D):c.52C>A (p.Gln18Lys) rs141902449 0.00084
NM_000733.4(CD3E):c.470C>T (p.Ala157Val) rs140639753 0.00083
NM_000733.4(CD3E):c.567+6G>A rs185185591 0.00061
NM_198053.3(CD247):c.360G>A (p.Ala120=) rs568106106 0.00058
NM_198053.3(CD247):c.58+11C>A rs375286157 0.00031
NM_000733.4(CD3E):c.387G>A (p.Ser129=) rs200193595 0.00012
NM_198053.3(CD247):c.430-6C>T rs200103990 0.00011
NM_000733.4(CD3E):c.353-18C>T rs201572053 0.00010
NM_198053.3(CD247):c.336+20C>T rs377122263 0.00010
NM_000733.4(CD3E):c.462T>C (p.Asn154=) rs372144734 0.00009
NM_198053.3(CD247):c.337-15C>T rs150725547 0.00009
NM_198053.3(CD247):c.444C>T (p.Ala148=) rs773084349 0.00009
NM_000732.6(CD3D):c.342C>T (p.Ala114=) rs201721807 0.00008
NM_000733.4(CD3E):c.27T>G (p.Val9=) rs200915775 0.00008
NM_198053.3(CD247):c.251A>G (p.Asp84Gly) rs181746205 0.00008
NM_198053.3(CD247):c.462C>T (p.Asp154=) rs181656780 0.00008
NM_000732.6(CD3D):c.30G>T (p.Leu10=) rs202080099 0.00007
NM_000733.4(CD3E):c.103+10T>C rs143015515 0.00007
NM_198053.3(CD247):c.337-14G>A rs375668936 0.00007
NM_000732.6(CD3D):c.202C>A (p.Arg68=) rs111033580 0.00006
NM_000732.6(CD3D):c.360G>A (p.Leu120=) rs150570955 0.00006
NM_000732.6(CD3D):c.55+12C>A rs1379953201 0.00006
NM_000733.4(CD3E):c.568-10T>G rs773328619 0.00006
NM_198053.3(CD247):c.220-20C>T rs184666213 0.00006
NM_198053.3(CD247):c.58+12G>A rs776195661 0.00005
NM_000733.4(CD3E):c.567+10G>T rs920180688 0.00004
NM_000733.4(CD3E):c.71-15C>T rs749389422 0.00004
NM_198053.3(CD247):c.429+12C>T rs201171777 0.00004
NM_198053.3(CD247):c.58+17G>A rs371314747 0.00004
NM_000732.6(CD3D):c.274+8C>T rs1209300043 0.00003
NM_000732.6(CD3D):c.275-5C>T rs188697778 0.00003
NM_000733.4(CD3E):c.70+7T>C rs1344530532 0.00003
NM_198053.3(CD247):c.411G>C (p.Gly137=) rs148298128 0.00003
NM_198053.3(CD247):c.58+8C>T rs201494226 0.00003
NM_000732.6(CD3D):c.411C>T (p.Ala137=) rs200520638 0.00002
NM_000733.4(CD3E):c.85+17T>C rs201478021 0.00002
NM_198053.3(CD247):c.414C>T (p.His138=) rs184894260 0.00002
NM_198053.3(CD247):c.430-5G>A rs767214938 0.00002
NM_198053.3(CD247):c.58+9G>A rs774727014 0.00002
NM_000732.6(CD3D):c.255C>T (p.Thr85=) rs200910273 0.00001
NM_000732.6(CD3D):c.309C>T (p.Thr103=) rs777386322 0.00001
NM_000732.6(CD3D):c.450+19G>A rs779545897 0.00001
NM_000732.6(CD3D):c.450+8T>C rs768378803 0.00001
NM_000732.6(CD3D):c.453C>T (p.Pro151=) rs745794915 0.00001
NM_000732.6(CD3D):c.81G>A (p.Glu27=) rs144504840 0.00001
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_198053.3(CD247):c.15G>A (p.Ala5=) rs746701386 0.00001
NM_198053.3(CD247):c.219+9G>A rs1444139145 0.00001
NM_198053.3(CD247):c.301-15C>T rs778391175 0.00001
NM_198053.3(CD247):c.337-6C>A rs1313839129 0.00001
NM_198053.3(CD247):c.394-10A>G rs369387062 0.00001
NM_198053.3(CD247):c.39G>A (p.Gln13=) rs760945719 0.00001
NM_198053.3(CD247):c.429+16G>A rs777799139 0.00001
NM_198053.3(CD247):c.429+19C>T rs769910123 0.00001
NM_000732.6(CD3D):c.108T>C (p.Asn36=)
NM_000732.6(CD3D):c.138A>C (p.Gly46=)
NM_000732.6(CD3D):c.141G>A (p.Thr47=)
NM_000732.6(CD3D):c.156C>G (p.Leu52=) rs751800253
NM_000732.6(CD3D):c.159A>T (p.Ser53=)
NM_000732.6(CD3D):c.15G>A (p.Thr5=) rs747917280
NM_000732.6(CD3D):c.162C>T (p.Asp54=)
NM_000732.6(CD3D):c.172C>T (p.Leu58=) rs2134059883
NM_000732.6(CD3D):c.189C>T (p.Arg63=) rs1948289777
NM_000732.6(CD3D):c.213T>C (p.Tyr71=)
NM_000732.6(CD3D):c.222T>C (p.Asn74=)
NM_000732.6(CD3D):c.225G>A (p.Gly75=)
NM_000732.6(CD3D):c.274+15A>G
NM_000732.6(CD3D):c.274+16A>G
NM_000732.6(CD3D):c.274+18C>A
NM_000732.6(CD3D):c.274+20T>G
NM_000732.6(CD3D):c.275-13C>T
NM_000732.6(CD3D):c.275-19C>T
NM_000732.6(CD3D):c.275-9C>G
NM_000732.6(CD3D):c.275-9C>T
NM_000732.6(CD3D):c.27C>T (p.Gly9=)
NM_000732.6(CD3D):c.300T>C (p.Asp100=)
NM_000732.6(CD3D):c.303A>G (p.Pro101=)
NM_000732.6(CD3D):c.30G>A (p.Leu10=)
NM_000732.6(CD3D):c.327C>T (p.Val109=)
NM_000732.6(CD3D):c.346C>T (p.Leu116=)
NM_000732.6(CD3D):c.351C>T (p.Leu117=)
NM_000732.6(CD3D):c.378T>C (p.Ala126=) rs1237318986
NM_000732.6(CD3D):c.381A>C (p.Gly127=)
NM_000732.6(CD3D):c.384T>C (p.His128=)
NM_000732.6(CD3D):c.396G>A (p.Arg132=)
NM_000732.6(CD3D):c.399G>C (p.Leu133=)
NM_000732.6(CD3D):c.406+12A>G
NM_000732.6(CD3D):c.406+14C>A
NM_000732.6(CD3D):c.406+14C>T
NM_000732.6(CD3D):c.406+7G>A
NM_000732.6(CD3D):c.407-10G>A
NM_000732.6(CD3D):c.407-10G>T
NM_000732.6(CD3D):c.407-13C>G
NM_000732.6(CD3D):c.407-15C>T rs2134058903
NM_000732.6(CD3D):c.407-17C>T
NM_000732.6(CD3D):c.407-18T>C
NM_000732.6(CD3D):c.407-19CT[3]
NM_000732.6(CD3D):c.407-7C>T
NM_000732.6(CD3D):c.411C>A (p.Ala137=)
NM_000732.6(CD3D):c.430A>C (p.Arg144=)
NM_000732.6(CD3D):c.444C>G (p.Val148=)
NM_000732.6(CD3D):c.450+14G>T rs768322685
NM_000732.6(CD3D):c.450+18G>A
NM_000732.6(CD3D):c.450+7G>A
NM_000732.6(CD3D):c.450+7G>T rs201810356
NM_000732.6(CD3D):c.451-12C>T
NM_000732.6(CD3D):c.451-15C>T rs2134058621
NM_000732.6(CD3D):c.451-18T>C
NM_000732.6(CD3D):c.451-7C>G
NM_000732.6(CD3D):c.451-8T>C
NM_000732.6(CD3D):c.451-9C>T
NM_000732.6(CD3D):c.451-9_451-7del rs758585177
NM_000732.6(CD3D):c.465A>C (p.Arg155=)
NM_000732.6(CD3D):c.477G>A (p.Gln159=)
NM_000732.6(CD3D):c.480C>T (p.Tyr160=)
NM_000732.6(CD3D):c.486C>T (p.His162=)
NM_000732.6(CD3D):c.48C>T (p.Leu16=)
NM_000732.6(CD3D):c.51G>A (p.Ser17=)
NM_000732.6(CD3D):c.51G>C (p.Ser17=)
NM_000732.6(CD3D):c.51G>T (p.Ser17=) rs371909040
NM_000732.6(CD3D):c.55+16G>A
NM_000732.6(CD3D):c.55+20G>A
NM_000732.6(CD3D):c.55+20G>C
NM_000732.6(CD3D):c.55+20del
NM_000732.6(CD3D):c.55+8T>G
NM_000732.6(CD3D):c.56-10del rs1264668031
NM_000732.6(CD3D):c.56-15T>C
NM_000732.6(CD3D):c.56-16A>G
NM_000732.6(CD3D):c.56-7C>T rs2134060049
NM_000732.6(CD3D):c.84A>G (p.Glu28=)
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
NM_198053.3(CD247):c.151C>T (p.Leu51=)
NM_198053.3(CD247):c.15G>T (p.Ala5=)
NM_198053.3(CD247):c.162+15G>A
NM_198053.3(CD247):c.162+15G>T
NM_198053.3(CD247):c.162+7A>G
NM_198053.3(CD247):c.163-13T>C
NM_198053.3(CD247):c.219+10C>T
NM_198053.3(CD247):c.219+13C>G rs2101994086
NM_198053.3(CD247):c.219+13C>T rs2101994086
NM_198053.3(CD247):c.219+16C>G rs12141641
NM_198053.3(CD247):c.222G>A (p.Glu74=)
NM_198053.3(CD247):c.24C>T (p.Thr8=)
NM_198053.3(CD247):c.291G>A (p.Gly97=)
NM_198053.3(CD247):c.294A>G (p.Gly98=) rs1453205554
NM_198053.3(CD247):c.300+11C>T
NM_198053.3(CD247):c.300+13C>G
NM_198053.3(CD247):c.301-20C>T
NM_198053.3(CD247):c.309G>A (p.Arg103=)
NM_198053.3(CD247):c.328C>T (p.Leu110=)
NM_198053.3(CD247):c.337-11C>A
NM_198053.3(CD247):c.337-18C>G
NM_198053.3(CD247):c.337-4G>T
NM_198053.3(CD247):c.337-5T>C
NM_198053.3(CD247):c.345G>A (p.Gln115=) rs2101986584
NM_198053.3(CD247):c.348A>G (p.Lys116=)
NM_198053.3(CD247):c.381G>T (p.Gly127=)
NM_198053.3(CD247):c.394-19T>C
NM_198053.3(CD247):c.394-6_394-4del
NM_198053.3(CD247):c.394-8_394-5del rs769263658
NM_198053.3(CD247):c.417T>C (p.Asp139=)
NM_198053.3(CD247):c.429+13G>A
NM_198053.3(CD247):c.429+15C>T
NM_198053.3(CD247):c.430-12C>G
NM_198053.3(CD247):c.447C>T (p.Thr149=)
NM_198053.3(CD247):c.51G>A (p.Pro17=)
NM_198053.3(CD247):c.58+11C>T rs375286157
NM_198053.3(CD247):c.58+20G>C
NM_198053.3(CD247):c.59-6G>T
NM_198053.3(CD247):c.6G>A (p.Lys2=)
NM_198053.3(CD247):c.76C>T (p.Leu26=) rs1651787952

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