ClinVar Miner

List of variants in gene PLCG2 reported as uncertain significance for autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_002661.5(PLCG2):c.923C>T (p.Ala308Val) rs199636472 0.00104
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met) rs189301790 0.00058
NM_002661.5(PLCG2):c.2260G>C (p.Asp754His) rs190001915 0.00026
NM_002661.5(PLCG2):c.406G>A (p.Ala136Thr) rs367885048 0.00021
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.510G>T (p.Leu170Phe) rs759598100 0.00014
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.3516C>T (p.Ser1172=) rs773778524 0.00007
NM_002661.5(PLCG2):c.2031C>T (p.Ser677=) rs759929786 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.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.2383C>G (p.Leu795Val) rs748644186 0.00005
NM_002661.5(PLCG2):c.3423G>A (p.Met1141Ile) rs552036893 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.1387G>A (p.Asp463Asn) rs752906992 0.00004
NM_002661.5(PLCG2):c.1559A>G (p.Asp520Gly) rs201391996 0.00004
NM_002661.5(PLCG2):c.2164A>G (p.Lys722Glu) rs761399374 0.00004
NM_002661.5(PLCG2):c.2307+4C>T rs745912221 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.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.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.127G>A (p.Val43Ile) rs370352962 0.00002
NM_002661.5(PLCG2):c.1778A>G (p.Glu593Gly) rs776632754 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.1301C>T (p.Thr434Met) rs757785924 0.00001
NM_002661.5(PLCG2):c.1306G>A (p.Ala436Thr) rs1225918799 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.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.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.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.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.1744C>T (p.Arg582Trp) rs1339374297
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.2090G>A (p.Arg697Gln) rs767717794
NM_002661.5(PLCG2):c.2184G>C (p.Lys728Asn) rs2143682822
NM_002661.5(PLCG2):c.2418-694C>G rs901895283
NM_002661.5(PLCG2):c.2694G>T (p.Glu898Asp)
NM_002661.5(PLCG2):c.3075C>G (p.His1025Gln) rs368241065
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.48C>G (p.Ser16Arg) rs752018966
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

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