ClinVar Miner

List of variants reported as uncertain significance for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
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.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.22C>T (p.Arg8Trp) rs201778935 0.00003
NM_005214.5(CTLA4):c.268A>G (p.Met90Val) rs370443546 0.00003
NM_005214.5(CTLA4):c.110-3T>C rs773279316 0.00002
NM_005214.5(CTLA4):c.211G>T (p.Val71Leu) rs1347670398 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.467C>T (p.Pro156Leu) rs756706504 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
NC_000002.11:g.(?_204732666)_(204737535_?)dup
NM_005214.4(CTLA4):c.110_118delCAATGCACG rs1559591640
NM_005214.5(CTLA4):c.137T>C (p.Val46Ala) rs2105775135
NM_005214.5(CTLA4):c.143C>A (p.Ala48Asp)
NM_005214.5(CTLA4):c.154G>A (p.Gly52Ser)
NM_005214.5(CTLA4):c.155G>T (p.Gly52Val) rs1688712533
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) rs1553657387
NM_005214.5(CTLA4):c.164G>A (p.Ser55Asn)
NM_005214.5(CTLA4):c.173G>C (p.Cys58Ser) rs1581573671
NM_005214.5(CTLA4):c.173G>T (p.Cys58Phe)
NM_005214.5(CTLA4):c.188C>T (p.Pro63Leu)
NM_005214.5(CTLA4):c.194A>G (p.Lys65Arg)
NM_005214.5(CTLA4):c.205G>A (p.Val69Ile)
NM_005214.5(CTLA4):c.224G>A (p.Arg75Gln) rs1196646336
NM_005214.5(CTLA4):c.229G>A (p.Ala77Thr)
NM_005214.5(CTLA4):c.238C>G (p.Gln80Glu)
NM_005214.5(CTLA4):c.23G>T (p.Arg8Leu)
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.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.295G>C (p.Asp99His)
NM_005214.5(CTLA4):c.304A>G (p.Ile102Val)
NM_005214.5(CTLA4):c.308G>A (p.Cys103Tyr)
NM_005214.5(CTLA4):c.325G>A (p.Gly109Arg)
NM_005214.5(CTLA4):c.344C>T (p.Thr115Ile)
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.380A>G (p.Tyr127Cys) rs1688717498
NM_005214.5(CTLA4):c.385T>A (p.Cys129Ser) rs2105775473
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.413C>T (p.Pro138Leu)
NM_005214.5(CTLA4):c.415T>C (p.Tyr139His)
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
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.436_437delinsCT (p.Gly146Leu) rs1559591863
NM_005214.5(CTLA4):c.439A>G (p.Thr147Ala) rs1466152724
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+4A>G rs1553657438
NM_005214.5(CTLA4):c.457+6C>G rs1688719278
NM_005214.5(CTLA4):c.457G>T (p.Asp153Tyr)
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.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.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.567G>A (p.Met189Ile) rs1688732243
NM_005214.5(CTLA4):c.568C>T (p.Leu190=)
NM_005214.5(CTLA4):c.56C>T (p.Thr19Ile)
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.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.659T>C (p.Ile220Thr)
NM_005214.5(CTLA4):c.665T>A (p.Ile222Asn) rs1688758291
NM_005214.5(CTLA4):c.68C>T (p.Thr23Ile) rs1365829864
NM_005214.5(CTLA4):c.97G>A (p.Val33Ile) rs2105772910

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