ClinVar Miner

List of variants studied for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_005214.5(CTLA4):c.*1148+236G>A rs3087243 0.36123
NC_000002.12:g.203866796C>T rs16840252 0.16493
NC_000002.12:g.203867624C>T rs5742909 0.06759
NM_005214.5(CTLA4):c.75G>C (p.Leu25=) rs16840275 0.00761
NM_005214.5(CTLA4):c.*375G>A rs13384548 0.00105
NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln) rs138279736 0.00021
NM_005214.5(CTLA4):c.326G>A (p.Gly109Glu) rs144988077 0.00021
NM_005214.5(CTLA4):c.372G>A (p.Thr124=) rs372929906 0.00021
NM_005214.5(CTLA4):c.516G>A (p.Ser172=) rs375949600 0.00018
NM_005214.5(CTLA4):c.457+12C>T rs368427057 0.00016
NM_005214.5(CTLA4):c.457+14T>C rs770198835 0.00016
NM_005214.5(CTLA4):c.468G>A (p.Pro156=) rs200657280 0.00009
NM_005214.5(CTLA4):c.565A>G (p.Met189Val) rs199912925 0.00007
NM_005214.5(CTLA4):c.94C>T (p.Pro32Ser) rs369567630 0.00007
NM_005214.5(CTLA4):c.257C>T (p.Ala86Val) rs376038796 0.00006
NM_005214.5(CTLA4):c.4G>T (p.Ala2Ser) rs767352102 0.00006
NM_005214.5(CTLA4):c.312G>A (p.Thr104=) rs770065318 0.00004
NM_005214.5(CTLA4):c.411G>A (p.Pro137=) rs188862082 0.00004
NM_005214.5(CTLA4):c.22C>T (p.Arg8Trp) rs201778935 0.00003
NM_005214.5(CTLA4):c.268A>G (p.Met90Val) rs370443546 0.00003
NM_005214.5(CTLA4):c.435C>T (p.Asn145=) rs777300741 0.00003
NM_005214.5(CTLA4):c.615C>G (p.Pro205=) rs74808460 0.00003
NM_005214.5(CTLA4):c.110-3T>C rs773279316 0.00002
NM_005214.5(CTLA4):c.117C>T (p.His39=) rs760446668 0.00002
NM_005214.5(CTLA4):c.171G>A (p.Val57=) rs373393185 0.00002
NM_005214.5(CTLA4):c.110-7A>G rs200180357 0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_005214.5(CTLA4):c.211G>T (p.Val71Leu) rs1347670398 0.00001
NM_005214.5(CTLA4):c.216A>G (p.Thr72=) rs199943943 0.00001
NM_005214.5(CTLA4):c.219G>C (p.Val73=) rs866679318 0.00001
NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp) rs1688714312 0.00001
NM_005214.5(CTLA4):c.265T>C (p.Tyr89His) rs1403336336 0.00001
NM_005214.5(CTLA4):c.311C>T (p.Thr104Met) rs759232662 0.00001
NM_005214.5(CTLA4):c.352G>C (p.Gly118Arg) rs764089901 0.00001
NM_005214.5(CTLA4):c.371C>T (p.Thr124Met) rs757773669 0.00001
NM_005214.5(CTLA4):c.384C>G (p.Ile128Met) rs750841862 0.00001
NM_005214.5(CTLA4):c.42C>T (p.Asn14=) rs376591332 0.00001
NM_005214.5(CTLA4):c.467C>T (p.Pro156Leu) rs756706504 0.00001
NM_005214.5(CTLA4):c.501T>C (p.Leu167=) rs749059847 0.00001
NM_005214.5(CTLA4):c.515C>T (p.Ser172Leu) rs963824682 0.00001
NM_005214.5(CTLA4):c.553T>A (p.Ser185Thr) rs773775010 0.00001
NM_005214.5(CTLA4):c.619A>G (p.Thr207Ala) rs1278638729 0.00001
NM_005214.5(CTLA4):c.626C>G (p.Pro209Arg) rs778534474 0.00001
NM_005214.5(CTLA4):c.62C>G (p.Pro21Arg) rs1041117695 0.00001
NM_005214.5(CTLA4):c.63C>T (p.Pro21=) rs1290173158 0.00001
NM_005214.5(CTLA4):c.87C>T (p.Leu29=) rs145950656 0.00001
NC_000002.11:g.(?_201943606)_(204824322_?)del
NC_000002.11:g.(?_204731519)_(204732794_?)del
NC_000002.11:g.(?_204732666)_(204737535_?)dup
NC_000002.11:g.(?_204734049)_(204737535_?)del
NC_000002.12:g.(?_203444868)_(203957883_?)del
NC_000002.12:g.(?_203866796)_(203959619_?)del
NM_005214.4(CTLA4):c.110_118delCAATGCACG rs1559591640
NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter) rs606231420
NM_005214.5(CTLA4):c.109+1G>A rs606231421
NM_005214.5(CTLA4):c.109+1G>T rs606231421
NM_005214.5(CTLA4):c.110-16G>T
NM_005214.5(CTLA4):c.110-1G>A
NM_005214.5(CTLA4):c.110-4C>G
NM_005214.5(CTLA4):c.110-7A>T
NM_005214.5(CTLA4):c.115_139delinsGAAAA (p.His39fs) rs1688711686
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.137T>C (p.Val46Ala) rs2105775135
NM_005214.5(CTLA4):c.141G>A (p.Leu47=) rs776726776
NM_005214.5(CTLA4):c.143C>A (p.Ala48Asp)
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005214.5(CTLA4):c.154G>A (p.Gly52Ser)
NM_005214.5(CTLA4):c.155G>T (p.Gly52Val) rs1688712533
NM_005214.5(CTLA4):c.159C>T (p.Ile53=) rs765325921
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) rs1553657387
NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro)
NM_005214.5(CTLA4):c.164G>A (p.Ser55Asn)
NM_005214.5(CTLA4):c.172_175del (p.Cys58fs) rs1688712720
NM_005214.5(CTLA4):c.173G>C (p.Cys58Ser) rs1581573671
NM_005214.5(CTLA4):c.173G>T (p.Cys58Phe)
NM_005214.5(CTLA4):c.177G>A (p.Glu59=) rs1581573676
NM_005214.5(CTLA4):c.180T>C (p.Tyr60=)
NM_005214.5(CTLA4):c.188C>T (p.Pro63Leu)
NM_005214.5(CTLA4):c.194A>G (p.Lys65Arg)
NM_005214.5(CTLA4):c.198C>A (p.Ala66=) rs979522213
NM_005214.5(CTLA4):c.205G>A (p.Val69Ile)
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.211del (p.Arg70_Val71insTer) rs1559591695
NM_005214.5(CTLA4):c.213G>C (p.Val71=) rs1688713996
NM_005214.5(CTLA4):c.216dup (p.Val73fs)
NM_005214.5(CTLA4):c.223C>A (p.Arg75=)
NM_005214.5(CTLA4):c.224G>A (p.Arg75Gln) rs1196646336
NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter) rs1688714490
NM_005214.5(CTLA4):c.229G>A (p.Ala77Thr)
NM_005214.5(CTLA4):c.238C>G (p.Gln80Glu)
NM_005214.5(CTLA4):c.238C>T (p.Gln80Ter) rs1688714703
NM_005214.5(CTLA4):c.23G>T (p.Arg8Leu)
NM_005214.5(CTLA4):c.246T>C (p.Thr82=)
NM_005214.5(CTLA4):c.254G>A (p.Cys85Tyr) rs2105775283
NM_005214.5(CTLA4):c.254G>C (p.Cys85Ser)
NM_005214.5(CTLA4):c.255T>G (p.Cys85Trp) rs1688715115
NM_005214.5(CTLA4):c.257C>G (p.Ala86Gly) rs376038796
NM_005214.5(CTLA4):c.258G>A (p.Ala86=)
NM_005214.5(CTLA4):c.260del (p.Ala87fs) rs1688715336
NM_005214.5(CTLA4):c.263C>A (p.Thr88Asn)
NM_005214.5(CTLA4):c.266A>G (p.Tyr89Cys) rs1559591751
NM_005214.5(CTLA4):c.272T>G (p.Met91Arg) rs1065442
NM_005214.5(CTLA4):c.288C>T (p.Thr96=)
NM_005214.5(CTLA4):c.295G>C (p.Asp99His)
NM_005214.5(CTLA4):c.300T>C (p.Asp100=)
NM_005214.5(CTLA4):c.304A>G (p.Ile102Val)
NM_005214.5(CTLA4):c.308G>A (p.Cys103Tyr)
NM_005214.5(CTLA4):c.309C>T (p.Cys103=) rs1291592984
NM_005214.5(CTLA4):c.30G>A (p.Lys10=) rs1688657524
NM_005214.5(CTLA4):c.312G>C (p.Thr104=)
NM_005214.5(CTLA4):c.315C>T (p.Gly105=)
NM_005214.5(CTLA4):c.325G>A (p.Gly109Arg)
NM_005214.5(CTLA4):c.344C>T (p.Thr115Ile)
NM_005214.5(CTLA4):c.345T>C (p.Thr115=) rs2105775415
NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter) rs1688716836
NM_005214.5(CTLA4):c.352G>A (p.Gly118Arg) rs764089901
NM_005214.5(CTLA4):c.356T>A (p.Leu119Gln)
NM_005214.5(CTLA4):c.364A>G (p.Met122Val)
NM_005214.5(CTLA4):c.370A>C (p.Thr124Pro)
NM_005214.5(CTLA4):c.370A>T (p.Thr124Ser) rs1286462906
NM_005214.5(CTLA4):c.373G>A (p.Gly125Arg) rs1553657427
NM_005214.5(CTLA4):c.374G>A (p.Gly125Glu) rs1553657428
NM_005214.5(CTLA4):c.37_53del (p.Leu13fs) rs1581571813
NM_005214.5(CTLA4):c.380A>G (p.Tyr127Cys) rs1688717498
NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)
NM_005214.5(CTLA4):c.385T>A (p.Cys129Ser) rs2105775473
NM_005214.5(CTLA4):c.390G>A (p.Lys130=)
NM_005214.5(CTLA4):c.394G>A (p.Glu132Lys) rs1581573888
NM_005214.5(CTLA4):c.397C>A (p.Leu133Ile) rs1688717773
NM_005214.5(CTLA4):c.400A>G (p.Met134Val)
NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln) rs1553657429
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr) rs1553657430
NM_005214.5(CTLA4):c.413C>T (p.Pro138Leu)
NM_005214.5(CTLA4):c.415T>C (p.Tyr139His)
NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser) rs1581573923
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005214.5(CTLA4):c.417C>T (p.Tyr139=) rs2105775510
NM_005214.5(CTLA4):c.420C>A (p.Tyr140Ter) rs1357409506
NM_005214.5(CTLA4):c.420C>T (p.Tyr140=)
NM_005214.5(CTLA4):c.421C>T (p.Leu141=) rs752339954
NM_005214.5(CTLA4):c.422T>C (p.Leu141Pro) rs1357774202
NM_005214.5(CTLA4):c.430G>A (p.Gly144Ser)
NM_005214.5(CTLA4):c.430G>T (p.Gly144Cys) rs1559591850
NM_005214.5(CTLA4):c.432C>T (p.Gly144=) rs2105775528
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg) rs1688718864
NM_005214.5(CTLA4):c.436_437delinsCT (p.Gly146Leu) rs1559591863
NM_005214.5(CTLA4):c.439A>G (p.Thr147Ala) rs1466152724
NM_005214.5(CTLA4):c.450T>G (p.Tyr150Ter)
NM_005214.5(CTLA4):c.455T>C (p.Ile152Thr) rs1688719095
NM_005214.5(CTLA4):c.456T>A (p.Ile152=) rs1242260236
NM_005214.5(CTLA4):c.457+12C>A
NM_005214.5(CTLA4):c.457+13A>G
NM_005214.5(CTLA4):c.457+4A>G rs1553657438
NM_005214.5(CTLA4):c.457+6C>G rs1688719278
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn) rs1581573970
NM_005214.5(CTLA4):c.457G>T (p.Asp153Tyr)
NM_005214.5(CTLA4):c.458-19G>A
NM_005214.5(CTLA4):c.458-1G>C rs1688729428
NM_005214.5(CTLA4):c.458-1G>T rs1688729428
NM_005214.5(CTLA4):c.460C>A (p.Pro154Thr)
NM_005214.5(CTLA4):c.463G>A (p.Glu155Lys) rs2105775980
NM_005214.5(CTLA4):c.482A>C (p.Asp161Ala) rs2105776000
NM_005214.5(CTLA4):c.487C>G (p.Leu163Val) rs1581574315
NM_005214.5(CTLA4):c.487C>T (p.Leu163Phe)
NM_005214.5(CTLA4):c.494G>A (p.Trp165Ter)
NM_005214.5(CTLA4):c.4_5insGTTGG (p.Ala2fs) rs1688656690
NM_005214.5(CTLA4):c.506C>A (p.Ala169Glu)
NM_005214.5(CTLA4):c.50C>T (p.Thr17Ile)
NM_005214.5(CTLA4):c.519GTT[1] (p.Leu174del)
NM_005214.5(CTLA4):c.522del (p.Leu174fs) rs2105776035
NM_005214.5(CTLA4):c.524T>A (p.Phe175Tyr)
NM_005214.5(CTLA4):c.529dup (p.Tyr177fs) rs1688731180
NM_005214.5(CTLA4):c.531T>A (p.Tyr177Ter) rs1688731278
NM_005214.5(CTLA4):c.538C>A (p.Leu180Ile)
NM_005214.5(CTLA4):c.539T>C (p.Leu180Pro) rs1688731438
NM_005214.5(CTLA4):c.543C>T (p.Leu181=)
NM_005214.5(CTLA4):c.567+1G>A rs1553657487
NM_005214.5(CTLA4):c.567+3G>A rs1688732320
NM_005214.5(CTLA4):c.567+5G>A
NM_005214.5(CTLA4):c.567+5G>C rs606231419
NM_005214.5(CTLA4):c.567G>A (p.Met189Ile) rs1688732243
NM_005214.5(CTLA4):c.568-13T>G
NM_005214.5(CTLA4):c.568-16T>C
NM_005214.5(CTLA4):c.568C>T (p.Leu190=)
NM_005214.5(CTLA4):c.56C>T (p.Thr19Ile)
NM_005214.5(CTLA4):c.588T>C (p.Leu196=)
NM_005214.5(CTLA4):c.596G>A (p.Gly199Glu) rs2105777131
NM_005214.5(CTLA4):c.597G>T (p.Gly199=)
NM_005214.5(CTLA4):c.598G>T (p.Val200Phe) rs1046533169
NM_005214.5(CTLA4):c.624G>A (p.Glu208=)
NM_005214.5(CTLA4):c.625C>G (p.Pro209Ala) rs1688757670
NM_005214.5(CTLA4):c.632G>A (p.Cys211Tyr) rs1688757847
NM_005214.5(CTLA4):c.654T>A (p.Tyr218Ter)
NM_005214.5(CTLA4):c.654T>C (p.Tyr218=)
NM_005214.5(CTLA4):c.659T>C (p.Ile220Thr)
NM_005214.5(CTLA4):c.665T>A (p.Ile222Asn) rs1688758291
NM_005214.5(CTLA4):c.669T>C (p.Asn223=)
NM_005214.5(CTLA4):c.68C>T (p.Thr23Ile) rs1365829864
NM_005214.5(CTLA4):c.71_72del (p.Leu24fs) rs2105772857
NM_005214.5(CTLA4):c.75del (p.Leu28fs) rs606231418
NM_005214.5(CTLA4):c.81T>C (p.Phe27=)
NM_005214.5(CTLA4):c.81dup (p.Leu28fs) rs1581571901
NM_005214.5(CTLA4):c.84T>C (p.Leu28=)
NM_005214.5(CTLA4):c.87C>G (p.Leu29=) rs145950656
NM_005214.5(CTLA4):c.93C>T (p.Ile31=) rs1315404501
NM_005214.5(CTLA4):c.97G>A (p.Val33Ile) rs2105772910

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