ClinVar Miner

List of variants in gene PLCG2 studied for autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002661.5(PLCG2):c.2055-8T>C rs12448130 0.99057
NM_002661.5(PLCG2):c.3314-23C>A rs4405546 0.91524
NM_002661.5(PLCG2):c.1467+38G>C rs4435248 0.75887
NM_002661.5(PLCG2):c.431+37G>C rs4341734 0.74893
NM_002661.5(PLCG2):c.1497C>T (p.Ala499=) rs1143689 0.72851
NM_002661.5(PLCG2):c.174T>C (p.Ala58=) rs1143685 0.68306
NM_002661.5(PLCG2):c.432-13T>A rs4888183 0.55511
NM_002661.5(PLCG2):c.480-22A>G rs12445580 0.54348
NM_002661.5(PLCG2):c.2236-14C>G rs12446127 0.48966
NM_002661.5(PLCG2):c.3093T>C (p.Asn1031=) rs1071644 0.39075
NM_002661.5(PLCG2):c.1149C>T (p.Asp383=) rs1143688 0.33340
NM_002661.5(PLCG2):c.692+25C>T rs11865395 0.28270
NM_002661.5(PLCG2):c.1558-18C>T rs113312523 0.01465
NM_002661.5(PLCG2):c.3482-3C>T rs74856898 0.00935
NM_002661.5(PLCG2):c.3726C>A (p.Leu1242=) rs76506409 0.00926
NM_002661.5(PLCG2):c.2262C>T (p.Asp754=) rs74032923 0.00884
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser) rs75472618 0.00802
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=) rs143195637 0.00513
NM_002661.5(PLCG2):c.2542C>T (p.Leu848Phe) rs114618894 0.00510
NM_002661.5(PLCG2):c.2355C>T (p.Ser785=) rs185307548 0.00307
NM_002661.5(PLCG2):c.600A>G (p.Glu200=) rs142140333 0.00294
NM_002661.5(PLCG2):c.1557+6G>C rs139565830 0.00235
NM_002661.5(PLCG2):c.1050C>A (p.Arg350=) rs185739725 0.00212
NM_002661.5(PLCG2):c.3573G>A (p.Glu1191=) rs201682723 0.00128
NM_002661.5(PLCG2):c.1671G>A (p.Lys557=) rs372347274 0.00111
NM_002661.5(PLCG2):c.923C>T (p.Ala308Val) rs199636472 0.00104
NM_002661.5(PLCG2):c.432-3C>T rs147749022 0.00094
NM_002661.5(PLCG2):c.3112C>T (p.Leu1038=) rs200813182 0.00067
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met) rs189301790 0.00058
NM_002661.5(PLCG2):c.57G>A (p.Lys19=) rs369542354 0.00055
NM_002661.5(PLCG2):c.110C>A (p.Thr37Asn) rs147349332 0.00048
NM_002661.5(PLCG2):c.2054+11G>C rs372245323 0.00041
NM_002661.5(PLCG2):c.1959C>T (p.Arg653=) rs117835631 0.00035
NM_002661.5(PLCG2):c.1419C>T (p.Asp473=) rs372678135 0.00033
NM_002661.5(PLCG2):c.3198+20C>G rs141049260 0.00032
NM_002661.5(PLCG2):c.2739+8C>A rs201659233 0.00030
NM_002661.5(PLCG2):c.2655G>A (p.Pro885=) rs187441573 0.00029
NM_002661.5(PLCG2):c.648+12C>G rs145838332 0.00027
NM_002661.5(PLCG2):c.2260G>C (p.Asp754His) rs190001915 0.00026
NM_002661.5(PLCG2):c.766-13T>G rs115570507 0.00022
NM_002661.5(PLCG2):c.2427A>G (p.Gly809=) rs200844173 0.00021
NM_002661.5(PLCG2):c.406G>A (p.Ala136Thr) rs367885048 0.00021
NM_002661.5(PLCG2):c.480-15C>T rs368147709 0.00021
NM_002661.5(PLCG2):c.678C>T (p.Ser226=) rs111553163 0.00021
NM_002661.5(PLCG2):c.171C>T (p.Thr57=) rs374354863 0.00019
NM_002661.5(PLCG2):c.1923C>T (p.His641=) rs374927413 0.00016
NM_002661.5(PLCG2):c.2940G>A (p.Lys980=) rs376216756 0.00016
NM_002661.5(PLCG2):c.581A>T (p.Lys194Ile) rs372054297 0.00016
NM_002661.5(PLCG2):c.1695G>C (p.Glu565Asp) rs375590398 0.00015
NM_002661.5(PLCG2):c.2148C>T (p.Leu716=) rs367677388 0.00014
NM_002661.5(PLCG2):c.510G>T (p.Leu170Phe) rs759598100 0.00014
NM_002661.5(PLCG2):c.1116T>C (p.His372=) rs369732261 0.00013
NM_002661.5(PLCG2):c.1383A>G (p.Arg461=) rs369098550 0.00013
NM_002661.5(PLCG2):c.1569T>A (p.Pro523=) rs199708049 0.00013
NM_002661.5(PLCG2):c.2913C>T (p.Pro971=) rs377752384 0.00013
NM_002661.5(PLCG2):c.1557+14C>G rs372814853 0.00012
NM_002661.5(PLCG2):c.3396G>A (p.Leu1132=) rs201475640 0.00011
NM_002661.5(PLCG2):c.2503C>A (p.Leu835Ile) rs186829827 0.00008
NM_002661.5(PLCG2):c.2581+10C>G rs367866295 0.00008
NM_002661.5(PLCG2):c.2055-10C>A rs747616797 0.00007
NM_002661.5(PLCG2):c.2236-15_2236-14insG rs768770205 0.00007
NM_002661.5(PLCG2):c.3516C>T (p.Ser1172=) rs773778524 0.00007
NM_002661.5(PLCG2):c.114C>T (p.Pro38=) rs750924322 0.00006
NM_002661.5(PLCG2):c.1558-8C>T rs371117206 0.00006
NM_002661.5(PLCG2):c.1629C>T (p.Ala543=) rs374641731 0.00006
NM_002661.5(PLCG2):c.1881C>T (p.Phe627=) rs754739394 0.00006
NM_002661.5(PLCG2):c.1998C>T (p.Asp666=) rs745784908 0.00006
NM_002661.5(PLCG2):c.2031C>T (p.Ser677=) rs759929786 0.00006
NM_002661.5(PLCG2):c.2259C>T (p.Tyr753=) rs370847174 0.00006
NM_002661.5(PLCG2):c.2331G>A (p.Leu777=) rs372491825 0.00006
NM_002661.5(PLCG2):c.2577C>T (p.Asn859=) rs747043855 0.00006
NM_002661.5(PLCG2):c.313G>A (p.Val105Ile) rs754914807 0.00006
NM_002661.5(PLCG2):c.32C>T (p.Ala11Val) rs753458249 0.00006
NM_002661.5(PLCG2):c.3336C>T (p.Ile1112=) rs193128632 0.00006
NM_002661.5(PLCG2):c.3374A>G (p.Tyr1125Cys) rs374877793 0.00006
NM_002661.5(PLCG2):c.3682C>T (p.Arg1228Trp) rs202108152 0.00006
NM_002661.5(PLCG2):c.421A>G (p.Ile141Val) rs554363067 0.00006
NM_002661.5(PLCG2):c.487C>T (p.Leu163Phe) rs375598204 0.00006
NM_002661.5(PLCG2):c.1073-15C>T rs371214101 0.00005
NM_002661.5(PLCG2):c.1464C>T (p.Asp488=) rs777149251 0.00005
NM_002661.5(PLCG2):c.2383C>G (p.Leu795Val) rs748644186 0.00005
NM_002661.5(PLCG2):c.323C>T (p.Thr108Met) rs535715020 0.00005
NM_002661.5(PLCG2):c.3423G>A (p.Met1141Ile) rs552036893 0.00005
NM_002661.5(PLCG2):c.3571-10C>T rs376240742 0.00005
NM_002661.5(PLCG2):c.407C>T (p.Ala136Val) rs777990663 0.00005
NM_002661.5(PLCG2):c.485G>C (p.Ser162Thr) rs142022471 0.00005
NM_002661.5(PLCG2):c.925G>A (p.Val309Met) rs768664050 0.00005
NM_002661.5(PLCG2):c.1073-17C>T rs572040225 0.00004
NM_002661.5(PLCG2):c.1387G>A (p.Asp463Asn) rs752906992 0.00004
NM_002661.5(PLCG2):c.1558-4C>A rs1325379831 0.00004
NM_002661.5(PLCG2):c.1559A>G (p.Asp520Gly) rs201391996 0.00004
NM_002661.5(PLCG2):c.183C>T (p.Ile61=) rs553657822 0.00004
NM_002661.5(PLCG2):c.2055-20C>A rs563045009 0.00004
NM_002661.5(PLCG2):c.2164A>G (p.Lys722Glu) rs761399374 0.00004
NM_002661.5(PLCG2):c.2301G>A (p.Pro767=) rs374390386 0.00004
NM_002661.5(PLCG2):c.2307+4C>T rs745912221 0.00004
NM_002661.5(PLCG2):c.2496C>T (p.Phe832=) rs766166854 0.00004
NM_002661.5(PLCG2):c.2578G>A (p.Val860Ile) rs370187601 0.00004
NM_002661.5(PLCG2):c.2600A>G (p.Lys867Arg) rs767599145 0.00004
NM_002661.5(PLCG2):c.3289A>G (p.Asn1097Asp) rs771322094 0.00004
NM_002661.5(PLCG2):c.3343C>T (p.Pro1115Ser) rs372606303 0.00004
NM_002661.5(PLCG2):c.3420T>C (p.Asp1140=) rs746749620 0.00004
NM_002661.5(PLCG2):c.3492C>T (p.Ser1164=) rs187113357 0.00004
NM_002661.5(PLCG2):c.3780C>G (p.Asn1260Lys) rs758825034 0.00004
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala) rs753974933 0.00004
NM_002661.5(PLCG2):c.564+19C>T rs564767670 0.00004
NM_002661.5(PLCG2):c.594C>G (p.Ser198Arg) rs368738612 0.00004
NM_002661.5(PLCG2):c.1194-16C>A rs778184999 0.00003
NM_002661.5(PLCG2):c.147G>A (p.Thr49=) rs969768555 0.00003
NM_002661.5(PLCG2):c.2235+3A>G rs544435013 0.00003
NM_002661.5(PLCG2):c.2245A>G (p.Ile749Val) rs761876435 0.00003
NM_002661.5(PLCG2):c.2522A>G (p.Glu841Gly) rs756855626 0.00003
NM_002661.5(PLCG2):c.3524T>C (p.Ile1175Thr) rs1265110994 0.00003
NM_002661.5(PLCG2):c.3650A>G (p.Tyr1217Cys) rs373013824 0.00003
NM_002661.5(PLCG2):c.438G>A (p.Leu146=) rs976068042 0.00003
NM_002661.5(PLCG2):c.766-7T>C rs1055824436 0.00003
NM_002661.5(PLCG2):c.127G>A (p.Val43Ile) rs370352962 0.00002
NM_002661.5(PLCG2):c.1437G>A (p.Gly479=) rs755597785 0.00002
NM_002661.5(PLCG2):c.1733+11C>T rs750585339 0.00002
NM_002661.5(PLCG2):c.1778A>G (p.Glu593Gly) rs776632754 0.00002
NM_002661.5(PLCG2):c.1935-4G>A rs762488045 0.00002
NM_002661.5(PLCG2):c.246C>T (p.Phe82=) rs771764012 0.00002
NM_002661.5(PLCG2):c.2740-13G>A rs1280371637 0.00002
NM_002661.5(PLCG2):c.3072T>C (p.Asn1024=) rs755927399 0.00002
NM_002661.5(PLCG2):c.3199-16C>T rs201410855 0.00002
NM_002661.5(PLCG2):c.3380C>G (p.Pro1127Arg) rs369259797 0.00002
NM_002661.5(PLCG2):c.3458A>G (p.Tyr1153Cys) rs146175110 0.00002
NM_002661.5(PLCG2):c.3544G>A (p.Val1182Ile) rs759887275 0.00002
NM_002661.5(PLCG2):c.3742A>C (p.Lys1248Gln) rs867313284 0.00002
NM_002661.5(PLCG2):c.3755G>C (p.Arg1252Thr) rs748492148 0.00002
NM_002661.5(PLCG2):c.1176C>T (p.His392=) rs773286721 0.00001
NM_002661.5(PLCG2):c.1212C>T (p.Ser404=) rs1405057614 0.00001
NM_002661.5(PLCG2):c.1236G>A (p.Glu412=) rs372240617 0.00001
NM_002661.5(PLCG2):c.1301C>T (p.Thr434Met) rs757785924 0.00001
NM_002661.5(PLCG2):c.1306G>A (p.Ala436Thr) rs1225918799 0.00001
NM_002661.5(PLCG2):c.1362+8C>A rs372538067 0.00001
NM_002661.5(PLCG2):c.1467+3G>A rs759974672 0.00001
NM_002661.5(PLCG2):c.1567C>G (p.Pro523Ala) rs574435526 0.00001
NM_002661.5(PLCG2):c.1634A>G (p.Lys545Arg) rs1555519355 0.00001
NM_002661.5(PLCG2):c.1745G>A (p.Arg582Gln) rs200325678 0.00001
NM_002661.5(PLCG2):c.1783G>A (p.Gly595Arg) rs758138167 0.00001
NM_002661.5(PLCG2):c.1855G>A (p.Glu619Lys) rs763166039 0.00001
NM_002661.5(PLCG2):c.1934+8T>G rs780081424 0.00001
NM_002661.5(PLCG2):c.2032G>A (p.Asp678Asn) rs541071022 0.00001
NM_002661.5(PLCG2):c.2067G>A (p.Lys689=) rs1369861469 0.00001
NM_002661.5(PLCG2):c.2102A>G (p.His701Arg) rs777219718 0.00001
NM_002661.5(PLCG2):c.2224C>T (p.Arg742Cys) rs776768909 0.00001
NM_002661.5(PLCG2):c.2263G>A (p.Val755Ile) rs758623675 0.00001
NM_002661.5(PLCG2):c.2296A>C (p.Asn766His) rs955126333 0.00001
NM_002661.5(PLCG2):c.2399C>G (p.Ser800Cys) rs769337881 0.00001
NM_002661.5(PLCG2):c.2581+5G>A rs769466948 0.00001
NM_002661.5(PLCG2):c.2739+19G>A rs776050949 0.00001
NM_002661.5(PLCG2):c.2828C>G (p.Thr943Ser) rs771302628 0.00001
NM_002661.5(PLCG2):c.2867G>A (p.Arg956His) rs376030995 0.00001
NM_002661.5(PLCG2):c.2912C>T (p.Pro971Leu) rs770381413 0.00001
NM_002661.5(PLCG2):c.3002G>A (p.Arg1001His) rs752209691 0.00001
NM_002661.5(PLCG2):c.3034C>T (p.Leu1012Phe) rs1597143704 0.00001
NM_002661.5(PLCG2):c.304A>G (p.Thr102Ala) rs991965495 0.00001
NM_002661.5(PLCG2):c.3097C>T (p.Arg1033Cys) rs376667295 0.00001
NM_002661.5(PLCG2):c.3098G>A (p.Arg1033His) rs760293225 0.00001
NM_002661.5(PLCG2):c.3109G>A (p.Val1037Ile) rs373561919 0.00001
NM_002661.5(PLCG2):c.337+2T>C rs866001196 0.00001
NM_002661.5(PLCG2):c.3388G>T (p.Ala1130Ser) rs1003946385 0.00001
NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile) rs372557475 0.00001
NM_002661.5(PLCG2):c.3504G>T (p.Lys1168Asn) rs1447212251 0.00001
NM_002661.5(PLCG2):c.3721C>T (p.Gln1241Ter) rs1406944158 0.00001
NM_002661.5(PLCG2):c.3750C>G (p.Asn1250Lys) rs1911592073 0.00001
NM_002661.5(PLCG2):c.547C>T (p.Leu183Phe) rs772451566 0.00001
NM_002661.5(PLCG2):c.591C>T (p.Leu197=) rs1440994305 0.00001
NM_002661.5(PLCG2):c.628A>C (p.Met210Leu) rs1367179036 0.00001
NM_002661.5(PLCG2):c.679G>A (p.Val227Met) rs769793664 0.00001
NM_002661.5(PLCG2):c.692+7C>T rs773842088 0.00001
NM_002661.5(PLCG2):c.784C>G (p.Leu262Val) rs372563994 0.00001
NM_002661.5(PLCG2):c.839C>G (p.Thr280Ser) rs757316414 0.00001
NM_002661.5(PLCG2):c.843T>C (p.Ala281=) rs755732530 0.00001
NM_002661.5(PLCG2):c.875C>T (p.Thr292Met) rs772003833 0.00001
NM_002661.5(PLCG2):c.922G>A (p.Ala308Thr) rs1382212475 0.00001
NM_002661.5(PLCG2):c.105G>A (p.Lys35=) rs1910957870
NM_002661.5(PLCG2):c.1225T>A (p.Cys409Ser) rs2143630582
NM_002661.5(PLCG2):c.1420G>A (p.Glu474Lys) rs867345397
NM_002661.5(PLCG2):c.146C>T (p.Thr49Met)
NM_002661.5(PLCG2):c.1525A>G (p.Ile509Val)
NM_002661.5(PLCG2):c.1558-13C>G rs763441688
NM_002661.5(PLCG2):c.1868G>T (p.Arg623Leu) rs1909580178
NM_002661.5(PLCG2):c.1990C>T (p.Pro664Ser) rs1909678188
NM_002661.5(PLCG2):c.2055-8_2055-7inv
NM_002661.5(PLCG2):c.2090G>A (p.Arg697Gln) rs767717794
NM_002661.5(PLCG2):c.2119T>C (p.Ser707Pro) rs2143682648
NM_002661.5(PLCG2):c.2120C>A (p.Ser707Tyr) rs397514562
NM_002661.5(PLCG2):c.2184G>C (p.Lys728Asn) rs2143682822
NM_002661.5(PLCG2):c.2236-14C>T rs12446127
NM_002661.5(PLCG2):c.2418-694C>G rs901895283
NM_002661.5(PLCG2):c.2534T>C (p.Leu845Ser) rs2143705605
NM_002661.5(PLCG2):c.2694G>T (p.Glu898Asp)
NM_002661.5(PLCG2):c.3053-8C>A rs1267501546
NM_002661.5(PLCG2):c.3075C>G (p.His1025Gln) rs368241065
NM_002661.5(PLCG2):c.3192A>C (p.Thr1064=) rs200366770
NM_002661.5(PLCG2):c.324G>C (p.Thr108=) rs189282309
NM_002661.5(PLCG2):c.3285CAA[2] (p.Asn1097del) rs749338323
NM_002661.5(PLCG2):c.3379C>G (p.Pro1127Ala) rs762731399
NM_002661.5(PLCG2):c.3747C>G (p.Cys1249Trp) rs1197295448
NM_002661.5(PLCG2):c.3756-20T>A rs762802134
NM_002661.5(PLCG2):c.48C>G (p.Ser16Arg) rs752018966
NM_002661.5(PLCG2):c.540C>G (p.Ala180=) rs150276286
NM_002661.5(PLCG2):c.540C>T (p.Ala180=) rs150276286
NM_002661.5(PLCG2):c.565-22del rs34761601
NM_002661.5(PLCG2):c.64C>A (p.Leu22Met) rs1423487027
NM_002661.5(PLCG2):c.852C>A (p.Phe284Leu) rs190687540
NM_002661.5(PLCG2):c.899G>T (p.Ser300Ile) rs764885126
NM_002661.5(PLCG2):c.906G>C (p.Trp302Cys) rs1908633748
NM_002661.5(PLCG2):c.942G>A (p.Met314Ile) rs1555517092

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.