ClinVar Miner

List of variants reported as likely benign for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_005214.5(CTLA4):c.372G>A (p.Thr124=) rs372929906 0.00019
NM_005214.5(CTLA4):c.516G>A (p.Ser172=) rs375949600 0.00018
NM_005214.5(CTLA4):c.457+14T>C rs770198835 0.00017
NM_005214.5(CTLA4):c.457+12C>T rs368427057 0.00016
NM_005214.5(CTLA4):c.468G>A (p.Pro156=) rs200657280 0.00009
NM_005214.5(CTLA4):c.411G>A (p.Pro137=) rs188862082 0.00005
NM_005214.5(CTLA4):c.615C>G (p.Pro205=) rs74808460 0.00004
NM_005214.5(CTLA4):c.435C>T (p.Asn145=) rs777300741 0.00003
NM_005214.5(CTLA4):c.568-13T>G rs761319270 0.00003
NM_005214.5(CTLA4):c.84T>C (p.Leu28=) rs1361361278 0.00003
NM_005214.5(CTLA4):c.110-4C>G rs767100685 0.00002
NM_005214.5(CTLA4):c.110-7A>G rs200180357 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.246T>C (p.Thr82=) rs139154557 0.00002
NM_005214.5(CTLA4):c.501T>C (p.Leu167=) rs749059847 0.00002
NM_005214.5(CTLA4):c.110-16G>T rs1231531519 0.00001
NM_005214.5(CTLA4):c.141G>A (p.Leu47=) rs776726776 0.00001
NM_005214.5(CTLA4):c.177G>A (p.Glu59=) rs1581573676 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.258G>A (p.Ala86=) rs771695723 0.00001
NM_005214.5(CTLA4):c.300T>C (p.Asp100=) rs1233838269 0.00001
NM_005214.5(CTLA4):c.390G>A (p.Lys130=) rs147679342 0.00001
NM_005214.5(CTLA4):c.420C>T (p.Tyr140=) rs1357409506 0.00001
NM_005214.5(CTLA4):c.42C>T (p.Asn14=) rs376591332 0.00001
NM_005214.5(CTLA4):c.63C>T (p.Pro21=) rs1290173158 0.00001
NM_005214.5(CTLA4):c.654T>C (p.Tyr218=) rs778114608 0.00001
NM_005214.5(CTLA4):c.81T>C (p.Phe27=) rs1159147215 0.00001
NM_005214.5(CTLA4):c.87C>T (p.Leu29=) rs145950656 0.00001
NM_005214.5(CTLA4):c.110-7A>T rs200180357
NM_005214.5(CTLA4):c.159C>T (p.Ile53=) rs765325921
NM_005214.5(CTLA4):c.180T>C (p.Tyr60=) rs2469719218
NM_005214.5(CTLA4):c.198C>A (p.Ala66=) rs979522213
NM_005214.5(CTLA4):c.213G>C (p.Val71=) rs1688713996
NM_005214.5(CTLA4):c.223C>A (p.Arg75=) rs1688714312
NM_005214.5(CTLA4):c.288C>T (p.Thr96=) rs2469719409
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=) rs770065318
NM_005214.5(CTLA4):c.315C>T (p.Gly105=) rs949253264
NM_005214.5(CTLA4):c.345T>C (p.Thr115=) rs2105775415
NM_005214.5(CTLA4):c.417C>T (p.Tyr139=) rs2105775510
NM_005214.5(CTLA4):c.421C>T (p.Leu141=) rs752339954
NM_005214.5(CTLA4):c.457+12C>A rs368427057
NM_005214.5(CTLA4):c.457+13A>G rs2469719746
NM_005214.5(CTLA4):c.457+8A>C
NM_005214.5(CTLA4):c.458-19G>A rs2469720694
NM_005214.5(CTLA4):c.543C>T (p.Leu181=) rs1688731505
NM_005214.5(CTLA4):c.567+16A>G
NM_005214.5(CTLA4):c.568-16T>C rs774080960
NM_005214.5(CTLA4):c.570A>G (p.Leu190=)
NM_005214.5(CTLA4):c.588T>C (p.Leu196=) rs2469722943
NM_005214.5(CTLA4):c.594A>G (p.Thr198=)
NM_005214.5(CTLA4):c.597G>T (p.Gly199=) rs749973402
NM_005214.5(CTLA4):c.624G>A (p.Glu208=) rs754809262
NM_005214.5(CTLA4):c.669T>C (p.Asn223=) rs2469723100
NM_005214.5(CTLA4):c.87C>G (p.Leu29=) rs145950656
NM_005214.5(CTLA4):c.93C>T (p.Ile31=) rs1315404501

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