ClinVar Miner

List of variants in gene PNPLA2 reported as uncertain significance for Neutral lipid storage myopathy

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Gene type:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_020376.4(PNPLA2):c.*134C>G rs559264417 0.00149
NM_020376.4(PNPLA2):c.1220C>T (p.Ser407Phe) rs202081894 0.00128
NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser) rs140634178 0.00122
NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe) rs137866968 0.00073
NM_020376.4(PNPLA2):c.369C>T (p.Asp123=) rs142174851 0.00068
NM_020376.4(PNPLA2):c.1406C>T (p.Pro469Leu) rs201177082 0.00063
NM_020376.4(PNPLA2):c.399C>T (p.Asn133=) rs143992505 0.00057
NM_020376.4(PNPLA2):c.903C>T (p.Pro301=) rs141190104 0.00052
NM_020376.4(PNPLA2):c.487-8C>T rs201418203 0.00048
NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=) rs147314508 0.00047
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln) rs139576982 0.00045
NM_020376.4(PNPLA2):c.1447G>C (p.Gly483Arg) rs557790601 0.00042
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser) rs150385364 0.00029
NM_020376.4(PNPLA2):c.1217C>T (p.Pro406Leu) rs370098225 0.00025
NM_020376.4(PNPLA2):c.726C>T (p.Tyr242=) rs144220751 0.00021
NM_020376.4(PNPLA2):c.*302G>A rs189155123 0.00019
NM_020376.4(PNPLA2):c.338G>A (p.Arg113His) rs145999340 0.00018
NM_020376.4(PNPLA2):c.*383C>T rs139951562 0.00011
NM_020376.4(PNPLA2):c.1408G>A (p.Ala470Thr) rs374358848 0.00011
NM_020376.4(PNPLA2):c.1415C>G (p.Ala472Gly) rs765640246 0.00011
NM_020376.4(PNPLA2):c.420+6G>T rs181493886 0.00011
NM_020376.4(PNPLA2):c.597C>T (p.Ser199=) rs552415591 0.00011
NM_020376.4(PNPLA2):c.235C>T (p.Arg79Trp) rs371871714 0.00010
NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln) rs373114735 0.00009
NM_020376.4(PNPLA2):c.844G>A (p.Ala282Thr) rs146739862 0.00009
NM_020376.4(PNPLA2):c.326A>G (p.His109Arg) rs200683247 0.00007
NM_020376.4(PNPLA2):c.*603A>G rs529573156 0.00005
NM_020376.4(PNPLA2):c.1201C>T (p.Arg401Cys) rs973794500 0.00005
NM_020376.4(PNPLA2):c.372C>T (p.Gly124=) rs140052906 0.00005
NM_020376.4(PNPLA2):c.591C>T (p.Asp197=) rs200897893 0.00005
NM_020376.4(PNPLA2):c.803G>A (p.Arg268His) rs774382796 0.00005
NM_020376.4(PNPLA2):c.1061A>G (p.Glu354Gly) rs1046972492 0.00004
NM_020376.4(PNPLA2):c.1145A>G (p.Lys382Arg) rs576535942 0.00004
NM_020376.4(PNPLA2):c.661C>T (p.Arg221Cys) rs538014722 0.00004
NM_020376.4(PNPLA2):c.747G>A (p.Leu249=) rs140959695 0.00004
NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu) rs201894536 0.00004
NM_020376.4(PNPLA2):c.815C>G (p.Pro272Arg) rs200993304 0.00004
NM_020376.4(PNPLA2):c.919+5G>C rs766196245 0.00004
NM_020376.4(PNPLA2):c.992C>T (p.Ala331Val) rs765466917 0.00004
NM_020376.4(PNPLA2):c.*567G>C rs143923514 0.00003
NM_020376.4(PNPLA2):c.1409C>T (p.Ala470Val) rs771710752 0.00003
NM_020376.4(PNPLA2):c.1429C>G (p.Pro477Ala) rs764557634 0.00003
NM_020376.4(PNPLA2):c.1484C>A (p.Ala495Asp) rs761924298 0.00003
NM_020376.4(PNPLA2):c.373G>A (p.Glu125Lys) rs1036232298 0.00003
NM_020376.4(PNPLA2):c.487-7G>C rs372342635 0.00003
NM_020376.4(PNPLA2):c.655C>T (p.Leu219Phe) rs140612115 0.00003
NM_020376.4(PNPLA2):c.772C>T (p.Pro258Ser) rs1246963580 0.00003
NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp) rs577421006 0.00002
NM_020376.4(PNPLA2):c.1138C>T (p.Arg380Cys) rs767225998 0.00002
NM_020376.4(PNPLA2):c.1353del (p.Asn451fs) rs754947101 0.00002
NM_020376.4(PNPLA2):c.1411C>T (p.Pro471Ser) rs910321788 0.00002
NM_020376.4(PNPLA2):c.284G>A (p.Arg95His) rs1845669885 0.00002
NM_020376.4(PNPLA2):c.359G>A (p.Arg120His) rs750269327 0.00002
NM_020376.4(PNPLA2):c.407A>G (p.Asp136Gly) rs1251746576 0.00002
NM_020376.4(PNPLA2):c.425A>G (p.Asn142Ser) rs758738508 0.00002
NM_020376.4(PNPLA2):c.628A>G (p.Thr210Ala) rs769139952 0.00002
NM_020376.4(PNPLA2):c.662G>A (p.Arg221His) rs554737718 0.00002
NM_020376.4(PNPLA2):c.711G>A (p.Met237Ile) rs768686938 0.00002
NM_020376.4(PNPLA2):c.757+6C>T rs751221114 0.00002
NM_020376.4(PNPLA2):c.851C>G (p.Ala284Gly) rs369213107 0.00002
NM_020376.4(PNPLA2):c.*160C>A rs1408575198 0.00001
NM_020376.4(PNPLA2):c.*384C>T rs991475122 0.00001
NM_020376.4(PNPLA2):c.1002G>A (p.Met334Ile) rs1449341922 0.00001
NM_020376.4(PNPLA2):c.1010C>T (p.Pro337Leu) rs370723127 0.00001
NM_020376.4(PNPLA2):c.1051C>A (p.Arg351Ser) rs745382468 0.00001
NM_020376.4(PNPLA2):c.1111G>A (p.Gly371Ser) rs546282715 0.00001
NM_020376.4(PNPLA2):c.1175+3G>A rs372368030 0.00001
NM_020376.4(PNPLA2):c.1266G>A (p.Trp422Ter) rs944560685 0.00001
NM_020376.4(PNPLA2):c.1316G>A (p.Cys439Tyr) rs766730036 0.00001
NM_020376.4(PNPLA2):c.1328T>G (p.Leu443Arg) rs568660338 0.00001
NM_020376.4(PNPLA2):c.1336G>A (p.Gly446Ser) rs368507289 0.00001
NM_020376.4(PNPLA2):c.1339C>T (p.Leu447Phe) rs769822451 0.00001
NM_020376.4(PNPLA2):c.1375C>G (p.Leu459Val) rs757529468 0.00001
NM_020376.4(PNPLA2):c.1379G>T (p.Arg460Leu) rs781603696 0.00001
NM_020376.4(PNPLA2):c.1399C>T (p.Pro467Ser) rs973786696 0.00001
NM_020376.4(PNPLA2):c.1427C>A (p.Ser476Tyr) rs1205958640 0.00001
NM_020376.4(PNPLA2):c.1478C>T (p.Pro493Leu) rs995158737 0.00001
NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=) rs1434319423 0.00001
NM_020376.4(PNPLA2):c.194C>T (p.Ala65Val) rs963468170 0.00001
NM_020376.4(PNPLA2):c.230G>A (p.Arg77Gln) rs373487598 0.00001
NM_020376.4(PNPLA2):c.256C>T (p.Pro86Ser) rs530863669 0.00001
NM_020376.4(PNPLA2):c.320A>G (p.His107Arg) rs749654266 0.00001
NM_020376.4(PNPLA2):c.337C>T (p.Arg113Cys) rs748673293 0.00001
NM_020376.4(PNPLA2):c.358C>T (p.Arg120Cys) rs760827576 0.00001
NM_020376.4(PNPLA2):c.409G>A (p.Glu137Lys) rs375693983 0.00001
NM_020376.4(PNPLA2):c.448G>A (p.Val150Met) rs745927123 0.00001
NM_020376.4(PNPLA2):c.527A>G (p.Tyr176Cys) rs141014055 0.00001
NM_020376.4(PNPLA2):c.564G>A (p.Ser188=) rs149864883 0.00001
NM_020376.4(PNPLA2):c.617G>A (p.Arg206Gln) rs781080080 0.00001
NM_020376.4(PNPLA2):c.681C>G (p.Phe227Leu) rs1845706236 0.00001
NM_020376.4(PNPLA2):c.683C>T (p.Pro228Leu) rs886048708 0.00001
NM_020376.4(PNPLA2):c.687G>A (p.Pro229=) rs371893260 0.00001
NM_020376.4(PNPLA2):c.781T>C (p.Leu261=) rs758918583 0.00001
NM_020376.4(PNPLA2):c.856G>A (p.Asp286Asn) rs992313245 0.00001
NM_020376.4(PNPLA2):c.874G>A (p.Gly292Arg) rs760234919 0.00001
NM_020376.4(PNPLA2):c.881A>G (p.Asp294Gly) rs1565088986 0.00001
NM_020376.4(PNPLA2):c.907C>G (p.Arg303Gly) rs772421048 0.00001
NM_020376.4(PNPLA2):c.912C>A (p.Leu304=) rs886048710 0.00001
NM_020376.4(PNPLA2):c.914A>G (p.Asn305Ser) rs1016887289 0.00001
NM_020376.4(PNPLA2):c.919+3G>A rs1467705745 0.00001
NM_020376.4(PNPLA2):c.920-13C>T rs752531051 0.00001
NM_020376.4(PNPLA2):c.953T>C (p.Leu318Pro) rs775075567 0.00001
NC_000011.10:g.(?_819709)_(824872_?)dup
NC_000011.9:g.(?_819719)_(822626_?)dup
NC_000011.9:g.(?_822584)_(827508_?)del
NM_020376.4(PNPLA2):c.*17A>G rs1845836341
NM_020376.4(PNPLA2):c.*232C>T rs1302487277
NM_020376.4(PNPLA2):c.*385G>T rs1157247119
NM_020376.4(PNPLA2):c.*568A>C rs1300324398
NM_020376.4(PNPLA2):c.*595C>A rs1305293273
NM_020376.4(PNPLA2):c.*637C>T rs886048711
NM_020376.4(PNPLA2):c.*88G>T rs563089334
NM_020376.4(PNPLA2):c.1021C>T (p.Pro341Ser) rs763909581
NM_020376.4(PNPLA2):c.1042_1044del (p.Phe348del)
NM_020376.4(PNPLA2):c.1052+12G>T rs1223282320
NM_020376.4(PNPLA2):c.1072G>A (p.Asp358Asn) rs1845793272
NM_020376.4(PNPLA2):c.1102G>C (p.Glu368Gln) rs769876456
NM_020376.4(PNPLA2):c.1107G>C (p.Gln369His)
NM_020376.4(PNPLA2):c.1112G>C (p.Gly371Ala)
NM_020376.4(PNPLA2):c.1120dup (p.Cys374fs)
NM_020376.4(PNPLA2):c.1132G>C (p.Val378Leu)
NM_020376.4(PNPLA2):c.1138C>G (p.Arg380Gly) rs767225998
NM_020376.4(PNPLA2):c.1139G>A (p.Arg380His) rs372164277
NM_020376.4(PNPLA2):c.1142C>T (p.Ala381Val)
NM_020376.4(PNPLA2):c.1150A>G (p.Lys384Glu) rs1385840827
NM_020376.4(PNPLA2):c.1154T>C (p.Leu385Pro) rs1845798336
NM_020376.4(PNPLA2):c.1168C>T (p.Pro390Ser)
NM_020376.4(PNPLA2):c.1181C>T (p.Pro394Leu)
NM_020376.4(PNPLA2):c.1198C>T (p.Arg400Cys)
NM_020376.4(PNPLA2):c.1204G>A (p.Val402Ile)
NM_020376.4(PNPLA2):c.1204G>C (p.Val402Leu) rs143718036
NM_020376.4(PNPLA2):c.1210T>G (p.Ser404Ala) rs2133851536
NM_020376.4(PNPLA2):c.1211C>T (p.Ser404Leu)
NM_020376.4(PNPLA2):c.1222G>T (p.Val408Leu) rs1387931915
NM_020376.4(PNPLA2):c.1226C>A (p.Pro409Gln)
NM_020376.4(PNPLA2):c.1226C>G (p.Pro409Arg) rs549863849
NM_020376.4(PNPLA2):c.1226C>T (p.Pro409Leu) rs549863849
NM_020376.4(PNPLA2):c.1232C>T (p.Ser411Phe)
NM_020376.4(PNPLA2):c.1240G>A (p.Ala414Thr) rs905195009
NM_020376.4(PNPLA2):c.1243_1245delinsCAG (p.Tyr415Gln) rs1554976791
NM_020376.4(PNPLA2):c.1251G>C (p.Glu417Asp) rs1187663359
NM_020376.4(PNPLA2):c.1253C>T (p.Ala418Val) rs1845815619
NM_020376.4(PNPLA2):c.1266G>C (p.Trp422Cys) rs944560685
NM_020376.4(PNPLA2):c.1279C>T (p.Leu427Phe) rs1590180520
NM_020376.4(PNPLA2):c.1283C>T (p.Ser428Leu)
NM_020376.4(PNPLA2):c.1336G>C (p.Gly446Arg)
NM_020376.4(PNPLA2):c.1337G>A (p.Gly446Asp)
NM_020376.4(PNPLA2):c.1346G>C (p.Cys449Ser)
NM_020376.4(PNPLA2):c.1349C>T (p.Thr450Ile) rs1160701959
NM_020376.4(PNPLA2):c.1351A>G (p.Asn451Asp)
NM_020376.4(PNPLA2):c.1353C>A (p.Asn451Lys) rs1034910696
NM_020376.4(PNPLA2):c.1354G>A (p.Val452Met)
NM_020376.4(PNPLA2):c.1363C>T (p.Pro455Ser) rs759964635
NM_020376.4(PNPLA2):c.1364C>T (p.Pro455Leu) rs187668158
NM_020376.4(PNPLA2):c.1376T>C (p.Leu459Pro)
NM_020376.4(PNPLA2):c.1376_1378dup (p.Leu459dup) rs2133852075
NM_020376.4(PNPLA2):c.1396G>A (p.Asp466Asn) rs1166778655
NM_020376.4(PNPLA2):c.1401_1421dup (p.Ala475_Ser476insProAlaProAlaAspProAla)
NM_020376.4(PNPLA2):c.1414G>A (p.Ala472Thr) rs1845828094
NM_020376.4(PNPLA2):c.1416_1475del (p.Asp473_Ala492del)
NM_020376.4(PNPLA2):c.1421C>G (p.Pro474Arg)
NM_020376.4(PNPLA2):c.1421C>T (p.Pro474Leu)
NM_020376.4(PNPLA2):c.1433A>G (p.Gln478Arg) rs929233099
NM_020376.4(PNPLA2):c.1435C>A (p.His479Asn)
NM_020376.4(PNPLA2):c.1447G>A (p.Gly483Arg) rs557790601
NM_020376.4(PNPLA2):c.1447_1451del (p.Gly483fs)
NM_020376.4(PNPLA2):c.1450C>A (p.Pro484Thr)
NM_020376.4(PNPLA2):c.1454C>T (p.Ala485Val)
NM_020376.4(PNPLA2):c.1456C>T (p.Pro486Ser) rs1554977196
NM_020376.4(PNPLA2):c.1457C>A (p.Pro486His) rs1274843840
NM_020376.4(PNPLA2):c.1457C>G (p.Pro486Arg)
NM_020376.4(PNPLA2):c.1459T>G (p.Leu487Val)
NM_020376.4(PNPLA2):c.1460dup (p.Leu487fs) rs1264283731
NM_020376.4(PNPLA2):c.1468A>G (p.Thr490Ala)
NM_020376.4(PNPLA2):c.1480G>A (p.Glu494Lys) rs1375873536
NM_020376.4(PNPLA2):c.1484C>T (p.Ala495Val) rs761924298
NM_020376.4(PNPLA2):c.1486C>G (p.Arg496Gly) rs767707536
NM_020376.4(PNPLA2):c.1486C>T (p.Arg496Trp) rs767707536
NM_020376.4(PNPLA2):c.1487_1504del (p.Arg496_Ala501del) rs747915336
NM_020376.4(PNPLA2):c.1508G>C (p.Gly503Ala) rs2133852665
NM_020376.4(PNPLA2):c.226G>A (p.Ala76Thr)
NM_020376.4(PNPLA2):c.229C>T (p.Arg77Trp)
NM_020376.4(PNPLA2):c.247C>G (p.Pro83Ala) rs2133847135
NM_020376.4(PNPLA2):c.260C>T (p.Ser87Phe)
NM_020376.4(PNPLA2):c.279C>G (p.Ile93Met)
NM_020376.4(PNPLA2):c.283C>T (p.Arg95Cys)
NM_020376.4(PNPLA2):c.291C>A (p.Phe97Leu) rs370529626
NM_020376.4(PNPLA2):c.291C>T (p.Phe97=)
NM_020376.4(PNPLA2):c.310_311delinsAT (p.Ala104Ile) rs1554975650
NM_020376.4(PNPLA2):c.341T>C (p.Leu114Pro)
NM_020376.4(PNPLA2):c.353T>C (p.Leu118Pro) rs1845671822
NM_020376.4(PNPLA2):c.370G>A (p.Gly124Ser)
NM_020376.4(PNPLA2):c.385A>G (p.Ile129Val) rs2133847263
NM_020376.4(PNPLA2):c.389C>A (p.Ser130Tyr)
NM_020376.4(PNPLA2):c.399_404del (p.Asn133_Ser134del) rs1351112659
NM_020376.4(PNPLA2):c.401C>G (p.Ser134Cys) rs779172876
NM_020376.4(PNPLA2):c.437G>T (p.Gly146Val) rs1430834122
NM_020376.4(PNPLA2):c.444C>T (p.Ile148=) rs1845681871
NM_020376.4(PNPLA2):c.448G>C (p.Val150Leu)
NM_020376.4(PNPLA2):c.448G>T (p.Val150Leu) rs745927123
NM_020376.4(PNPLA2):c.449T>G (p.Val150Gly) rs2133847491
NM_020376.4(PNPLA2):c.467C>T (p.Pro156Leu)
NM_020376.4(PNPLA2):c.470C>T (p.Pro157Leu) rs2133847527
NM_020376.4(PNPLA2):c.480G>C (p.Gln160His) rs1398922597
NM_020376.4(PNPLA2):c.487-15T>G rs749452055
NM_020376.4(PNPLA2):c.487-7G>A rs372342635
NM_020376.4(PNPLA2):c.487C>T (p.Arg163Cys) rs772999318
NM_020376.4(PNPLA2):c.493G>A (p.Val165Met)
NM_020376.4(PNPLA2):c.524T>A (p.Leu175His) rs2133847947
NM_020376.4(PNPLA2):c.537_539del (p.Lys179del) rs1179377141
NM_020376.4(PNPLA2):c.542C>T (p.Thr181Ile)
NM_020376.4(PNPLA2):c.553T>C (p.Ser185Pro) rs1845699284
NM_020376.4(PNPLA2):c.568G>A (p.Glu190Lys) rs1395689685
NM_020376.4(PNPLA2):c.578T>C (p.Ile193Thr)
NM_020376.4(PNPLA2):c.649C>A (p.Arg217Ser) rs773938209
NM_020376.4(PNPLA2):c.649C>T (p.Arg217Cys) rs773938209
NM_020376.4(PNPLA2):c.650G>A (p.Arg217His) rs761088720
NM_020376.4(PNPLA2):c.650G>T (p.Arg217Leu)
NM_020376.4(PNPLA2):c.665T>C (p.Leu222Pro)
NM_020376.4(PNPLA2):c.686C>T (p.Pro229Leu)
NM_020376.4(PNPLA2):c.697-3C>T rs1250160278
NM_020376.4(PNPLA2):c.704G>A (p.Arg235Gln) rs1162630638
NM_020376.4(PNPLA2):c.717G>A (p.Lys239=) rs1845737903
NM_020376.4(PNPLA2):c.727C>T (p.Arg243Trp)
NM_020376.4(PNPLA2):c.731A>G (p.Asp244Gly) rs1845738645
NM_020376.4(PNPLA2):c.738_739delinsAA (p.Arg247Ser) rs1845739283
NM_020376.4(PNPLA2):c.739C>T (p.Arg247Cys)
NM_020376.4(PNPLA2):c.749A>G (p.Gln250Arg)
NM_020376.4(PNPLA2):c.752G>A (p.Arg251Gln) rs988744471
NM_020376.4(PNPLA2):c.754_757+14dup rs765624116
NM_020376.4(PNPLA2):c.757+11C>G rs749740300
NM_020376.4(PNPLA2):c.757+5G>A rs1354419356
NM_020376.4(PNPLA2):c.769C>T (p.Arg257Trp)
NM_020376.4(PNPLA2):c.770G>A (p.Arg257Gln)
NM_020376.4(PNPLA2):c.778C>G (p.Pro260Ala)
NM_020376.4(PNPLA2):c.779C>T (p.Pro260Leu) rs1845754676
NM_020376.4(PNPLA2):c.785T>G (p.Leu262Arg)
NM_020376.4(PNPLA2):c.787G>A (p.Ala263Thr) rs569211679
NM_020376.4(PNPLA2):c.787G>T (p.Ala263Ser) rs569211679
NM_020376.4(PNPLA2):c.799G>A (p.Ala267Thr)
NM_020376.4(PNPLA2):c.824A>G (p.Lys275Arg)
NM_020376.4(PNPLA2):c.826G>A (p.Asp276Asn) rs886048709
NM_020376.4(PNPLA2):c.826G>C (p.Asp276His) rs886048709
NM_020376.4(PNPLA2):c.866A>G (p.Gln289Arg)
NM_020376.4(PNPLA2):c.871C>T (p.Pro291Ser) rs774103876
NM_020376.4(PNPLA2):c.875G>A (p.Gly292Glu)
NM_020376.4(PNPLA2):c.883C>G (p.His295Asp)
NM_020376.4(PNPLA2):c.886A>G (p.Ile296Val)
NM_020376.4(PNPLA2):c.890T>C (p.Leu297Pro) rs764543019
NM_020376.4(PNPLA2):c.902_910del (p.Pro301_Arg303del)
NM_020376.4(PNPLA2):c.908G>A (p.Arg303Gln) rs754108863
NM_020376.4(PNPLA2):c.908G>C (p.Arg303Pro)
NM_020376.4(PNPLA2):c.918G>C (p.Glu306Asp)
NM_020376.4(PNPLA2):c.919+4_919+18del rs1845765751
NM_020376.4(PNPLA2):c.926_936del (p.Leu309fs) rs1565089531
NM_020376.4(PNPLA2):c.932C>T (p.Ala311Val) rs780760382
NM_020376.4(PNPLA2):c.937G>A (p.Val313Met)
NM_020376.4(PNPLA2):c.944C>G (p.Pro315Arg) rs2133850068
NM_020376.4(PNPLA2):c.947C>T (p.Thr316Met)
NM_020376.4(PNPLA2):c.962C>T (p.Thr321Ile) rs1218651851
NM_020376.4(PNPLA2):c.968C>G (p.Ser323Cys)
NM_020376.4(PNPLA2):c.973A>C (p.Met325Leu) rs761266261
NM_020376.4(PNPLA2):c.975G>A (p.Met325Ile)
NM_020376.4(PNPLA2):c.980C>T (p.Pro327Leu) rs1845776663
NM_020376.4(PNPLA2):c.982G>T (p.Val328Leu)

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