ClinVar Miner

List of variants in gene CTLA4 reported as likely benign for autoimmune disease

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
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.411G>A (p.Pro137=) rs188862082 0.00004
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.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.216A>G (p.Thr72=) rs199943943 0.00001
NM_005214.5(CTLA4):c.219G>C (p.Val73=) rs866679318 0.00001
NM_005214.5(CTLA4):c.42C>T (p.Asn14=) rs376591332 0.00001
NM_005214.5(CTLA4):c.501T>C (p.Leu167=) rs749059847 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
NM_005214.5(CTLA4):c.110-16G>T
NM_005214.5(CTLA4):c.110-4C>G
NM_005214.5(CTLA4):c.110-7A>T
NM_005214.5(CTLA4):c.141G>A (p.Leu47=) rs776726776
NM_005214.5(CTLA4):c.159C>T (p.Ile53=) rs765325921
NM_005214.5(CTLA4):c.177G>A (p.Glu59=) rs1581573676
NM_005214.5(CTLA4):c.180T>C (p.Tyr60=)
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=)
NM_005214.5(CTLA4):c.246T>C (p.Thr82=)
NM_005214.5(CTLA4):c.258G>A (p.Ala86=)
NM_005214.5(CTLA4):c.288C>T (p.Thr96=)
NM_005214.5(CTLA4):c.300T>C (p.Asp100=)
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.345T>C (p.Thr115=) rs2105775415
NM_005214.5(CTLA4):c.390G>A (p.Lys130=)
NM_005214.5(CTLA4):c.417C>T (p.Tyr139=) rs2105775510
NM_005214.5(CTLA4):c.420C>T (p.Tyr140=)
NM_005214.5(CTLA4):c.421C>T (p.Leu141=) rs752339954
NM_005214.5(CTLA4):c.457+12C>A
NM_005214.5(CTLA4):c.457+13A>G
NM_005214.5(CTLA4):c.458-19G>A
NM_005214.5(CTLA4):c.568-13T>G
NM_005214.5(CTLA4):c.568-16T>C
NM_005214.5(CTLA4):c.588T>C (p.Leu196=)
NM_005214.5(CTLA4):c.624G>A (p.Glu208=)
NM_005214.5(CTLA4):c.654T>C (p.Tyr218=)
NM_005214.5(CTLA4):c.669T>C (p.Asn223=)
NM_005214.5(CTLA4):c.81T>C (p.Phe27=)
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

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