ClinVar Miner

List of variants studied for Immunodeficiency 18 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 212
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000733.4(CD3E):c.54C>T (p.Gly18=) rs1126924 0.25335
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.470C>T (p.Ala157Val) rs140639753 0.00083
NM_000733.4(CD3E):c.85+16C>T rs200489032 0.00068
NM_000733.4(CD3E):c.567+6G>A rs185185591 0.00061
NM_000733.4(CD3E):c.408G>A (p.Val136=) rs143868906 0.00059
NM_000733.4(CD3E):c.49+3G>A rs202200315 0.00041
NM_000733.4(CD3E):c.88G>A (p.Gly30Ser) rs773135734 0.00019
NM_000733.4(CD3E):c.398T>C (p.Ile133Thr) rs200987721 0.00016
NM_000733.4(CD3E):c.202G>A (p.Gly68Ser) rs200087808 0.00012
NM_000733.4(CD3E):c.387G>A (p.Ser129=) rs200193595 0.00012
NM_000733.4(CD3E):c.580G>A (p.Gly194Ser) rs141553540 0.00011
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.448T>C (p.Tyr150His) rs146881885 0.00007
NM_000733.4(CD3E):c.441G>A (p.Leu147=) rs528492194 0.00006
NM_000733.4(CD3E):c.500G>T (p.Gly167Val) rs745493004 0.00006
NM_000733.4(CD3E):c.568-10T>G rs773328619 0.00006
NM_000733.4(CD3E):c.230G>A (p.Ser77Asn) rs202007244 0.00004
NM_000733.4(CD3E):c.520+5G>A rs765464852 0.00004
NM_000733.4(CD3E):c.567+10G>T rs920180688 0.00004
NM_000733.4(CD3E):c.575G>A (p.Arg192Gln) rs202052957 0.00004
NM_000733.4(CD3E):c.71-15C>T rs749389422 0.00004
NM_000733.4(CD3E):c.255G>T (p.Lys85Asn) rs201263095 0.00003
NM_000733.4(CD3E):c.458A>C (p.Lys153Thr) rs200258299 0.00003
NM_000733.4(CD3E):c.499G>A (p.Gly167Ser) rs368489854 0.00003
NM_000733.4(CD3E):c.70+7T>C rs1344530532 0.00003
NM_000733.4(CD3E):c.116C>A (p.Ser39Tyr) rs369130631 0.00002
NM_000733.4(CD3E):c.617G>A (p.Arg206His) rs200083794 0.00002
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.464G>A (p.Arg155Lys) rs764151020 0.00001
NM_000733.4(CD3E):c.480G>A (p.Lys160=) rs746750290 0.00001
NM_000733.4(CD3E):c.490C>T (p.Arg164Ter) rs201840561 0.00001
NM_000733.4(CD3E):c.534G>A (p.Glu178=) rs948241853 0.00001
NM_000733.4(CD3E):c.548T>C (p.Val183Ala) rs148290036 0.00001
NM_000733.4(CD3E):c.55G>A (p.Val19Ile) rs143630318 0.00001
NM_000733.4(CD3E):c.579A>G (p.Lys193=) rs759238312 0.00001
NM_000733.4(CD3E):c.611A>G (p.Gln204Arg) rs1291390174 0.00001
NM_000733.4(CD3E):c.71-2A>G rs908640922 0.00001
NM_000733.4(CD3E):c.85+7A>T rs371830720 0.00001
NM_000733.4(CD3E):c.8C>T (p.Ser3Leu) rs771841066 0.00001
NC_000011.9:g.(?_116691583)_(121500272_?)dup
NC_000011.9:g.(?_117856768)_(118972385_?)del
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000011.9:g.(?_118175668)_(118179176_?)del
NM_000733.4(CD3E):c.103+14T>A
NM_000733.4(CD3E):c.103+1G>A rs201543770
NM_000733.4(CD3E):c.103+1G>T rs201543770
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.119T>C (p.Ile40Thr) rs2134766495
NM_000733.4(CD3E):c.131_132del (p.Thr44fs)
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.17A>C (p.His6Pro) rs1009249314
NM_000733.4(CD3E):c.189T>C (p.Asp63=)
NM_000733.4(CD3E):c.190A>T (p.Lys64Ter)
NM_000733.4(CD3E):c.201C>T (p.Gly67=)
NM_000733.4(CD3E):c.202_228del (p.Gly68_Gly76del) rs758638097
NM_000733.4(CD3E):c.202_228dup (p.Gly68_Gly76dup) rs758638097
NM_000733.4(CD3E):c.210G>A (p.Glu70=)
NM_000733.4(CD3E):c.211G>A (p.Asp71Asn) rs148647954
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000733.4(CD3E):c.221A>C (p.Asn74Thr) rs1948142751
NM_000733.4(CD3E):c.234T>C (p.Asp78=)
NM_000733.4(CD3E):c.239A>C (p.Asp80Ala) rs2134766737
NM_000733.4(CD3E):c.258A>G (p.Glu86=)
NM_000733.4(CD3E):c.261_262del (p.Ser88fs) rs1249197356
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>A (p.Tyr96Ter)
NM_000733.4(CD3E):c.288T>C (p.Tyr96=)
NM_000733.4(CD3E):c.292T>C (p.Cys98Arg) rs1948143376
NM_000733.4(CD3E):c.298C>A (p.Pro100Thr) rs201369123
NM_000733.4(CD3E):c.30G>A (p.Leu10=)
NM_000733.4(CD3E):c.30G>T (p.Leu10=)
NM_000733.4(CD3E):c.313C>A (p.Pro105Thr) rs1258864566
NM_000733.4(CD3E):c.323C>A (p.Ala108Glu) rs35299792
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.353-1G>A
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>G
NM_000733.4(CD3E):c.353-5C>T rs374456909
NM_000733.4(CD3E):c.353-5del
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.360G>C (p.Glu120Asp) rs1361788582
NM_000733.4(CD3E):c.39C>T (p.Cys13=)
NM_000733.4(CD3E):c.409G>T (p.Asp137Tyr) rs2134767843
NM_000733.4(CD3E):c.417C>T (p.Cys139=)
NM_000733.4(CD3E):c.420C>T (p.Ile140=)
NM_000733.4(CD3E):c.424G>C (p.Gly142Arg) rs2134767860
NM_000733.4(CD3E):c.428del (p.Gly143fs)
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.439C>G (p.Leu147Val) rs748959958
NM_000733.4(CD3E):c.468G>A (p.Lys156=)
NM_000733.4(CD3E):c.469G>T (p.Ala157Ser) rs1344416489
NM_000733.4(CD3E):c.472A>T (p.Lys158Ter)
NM_000733.4(CD3E):c.475G>T (p.Ala159Ser)
NM_000733.4(CD3E):c.481C>G (p.Pro161Ala)
NM_000733.4(CD3E):c.49+14A>G
NM_000733.4(CD3E):c.49+1G>A
NM_000733.4(CD3E):c.49+1G>C
NM_000733.4(CD3E):c.49+8G>A
NM_000733.4(CD3E):c.490C>A (p.Arg164=)
NM_000733.4(CD3E):c.490C>G (p.Arg164Gly)
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.508G>A (p.Gly170Ser) rs199578380
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+1G>A
NM_000733.4(CD3E):c.520+20T>C
NM_000733.4(CD3E):c.520+2T>C rs483352928
NM_000733.4(CD3E):c.521-10T>A
NM_000733.4(CD3E):c.521-13C>T
NM_000733.4(CD3E):c.521-15del rs2134768659
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.530del (p.Lys177fs) rs745496161
NM_000733.4(CD3E):c.542C>G (p.Pro181Arg) rs2134768706
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.568-16T>G
NM_000733.4(CD3E):c.568-17_568-14del
NM_000733.4(CD3E):c.568-3dup
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.575G>C (p.Arg192Pro)
NM_000733.4(CD3E):c.585G>A (p.Gln195=)
NM_000733.4(CD3E):c.586C>A (p.Arg196=)
NM_000733.4(CD3E):c.587G>A (p.Arg196Gln)
NM_000733.4(CD3E):c.58T>G (p.Trp20Gly)
NM_000733.4(CD3E):c.592C>T (p.Leu198=)
NM_000733.4(CD3E):c.59G>T (p.Trp20Leu) rs914391006
NM_000733.4(CD3E):c.603C>T (p.Gly201=) rs2134769949
NM_000733.4(CD3E):c.623G>A (p.Ter208=)
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.71G>T (p.Gly24Val)
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.85+4A>G rs2134762623
NM_000733.4(CD3E):c.86-10dup
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.89G>C (p.Gly30Ala)
NM_000733.4(CD3E):c.99G>C (p.Gln33His) rs1948139036
NM_000733.4(CD3E):c.9G>A (p.Ser3=) rs776010793

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.