ClinVar Miner

List of variants reported as likely benign for Neutral lipid storage myopathy

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Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_020376.4(PNPLA2):c.187+15G>A rs371958663 0.03705
NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys) rs140201358 0.00916
NM_020376.4(PNPLA2):c.919+4C>T rs148314086 0.00500
NM_020376.4(PNPLA2):c.*479C>T rs184629044 0.00349
NM_020376.4(PNPLA2):c.*288C>T rs117804986 0.00225
NM_020376.4(PNPLA2):c.1364C>A (p.Pro455Gln) rs187668158 0.00224
NM_020376.4(PNPLA2):c.1327C>G (p.Leu443Val) rs182948893 0.00210
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.30C>T (p.Ile10=) rs192598547 0.00094
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.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.758-11C>T rs369858435 0.00044
NM_020376.4(PNPLA2):c.-19C>A rs550469869 0.00038
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser) rs150385364 0.00029
NM_020376.4(PNPLA2):c.360C>T (p.Arg120=) rs141674273 0.00024
NM_020376.4(PNPLA2):c.726C>T (p.Tyr242=) rs144220751 0.00021
NM_020376.4(PNPLA2):c.72C>T (p.Gly24=) rs141027293 0.00021
NM_020376.4(PNPLA2):c.1368C>T (p.Pro456=) rs547688484 0.00020
NM_020376.4(PNPLA2):c.187+18C>A rs566043077 0.00016
NM_020376.4(PNPLA2):c.597C>T (p.Ser199=) rs552415591 0.00011
NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln) rs373114735 0.00009
NM_020376.4(PNPLA2):c.90C>G (p.Arg30=) rs770324200 0.00008
NM_020376.4(PNPLA2):c.1052+10C>T rs755623042 0.00007
NM_020376.4(PNPLA2):c.447C>T (p.Pro149=) rs61740111 0.00006
NM_020376.4(PNPLA2):c.408C>T (p.Asp136=) rs371125971 0.00005
NM_020376.4(PNPLA2):c.435C>T (p.Ser145=) rs752066752 0.00005
NM_020376.4(PNPLA2):c.516C>T (p.Asn172=) rs1015906173 0.00005
NM_020376.4(PNPLA2):c.591C>T (p.Asp197=) rs200897893 0.00005
NM_020376.4(PNPLA2):c.1052+13G>A rs367963691 0.00004
NM_020376.4(PNPLA2):c.1052+20G>A rs747433673 0.00004
NM_020376.4(PNPLA2):c.1395C>A (p.Ala465=) rs749249536 0.00004
NM_020376.4(PNPLA2):c.420+8C>G rs372314037 0.00004
NM_020376.4(PNPLA2):c.702G>T (p.Leu234=) rs146584016 0.00004
NM_020376.4(PNPLA2):c.747G>A (p.Leu249=) rs140959695 0.00004
NM_020376.4(PNPLA2):c.789G>C (p.Ala263=) rs757398905 0.00004
NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu) rs201894536 0.00004
NM_020376.4(PNPLA2):c.891G>A (p.Leu297=) rs572200318 0.00004
NM_020376.4(PNPLA2):c.1066C>T (p.Leu356=) rs778750269 0.00003
NM_020376.4(PNPLA2):c.1257G>T (p.Leu419=) rs935771027 0.00003
NM_020376.4(PNPLA2):c.1446C>G (p.Ala482=) rs768610141 0.00003
NM_020376.4(PNPLA2):c.1483G>A (p.Ala495Thr) rs577449205 0.00003
NM_020376.4(PNPLA2):c.201C>G (p.Ala67=) rs973505125 0.00003
NM_020376.4(PNPLA2):c.204G>A (p.Lys68=) rs1034378300 0.00003
NM_020376.4(PNPLA2):c.487-7G>C rs372342635 0.00003
NM_020376.4(PNPLA2):c.813C>G (p.Gly271=) rs760322669 0.00003
NM_020376.4(PNPLA2):c.920-7C>T rs570500480 0.00003
NM_020376.4(PNPLA2):c.1041C>G (p.Ser347=) rs374131475 0.00002
NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp) rs577421006 0.00002
NM_020376.4(PNPLA2):c.21G>A (p.Thr7=) rs368575770 0.00002
NM_020376.4(PNPLA2):c.36C>T (p.Phe12=) rs750233571 0.00002
NM_020376.4(PNPLA2):c.1032C>T (p.Ser344=) rs373862598 0.00001
NM_020376.4(PNPLA2):c.1052+15G>C rs1331098635 0.00001
NM_020376.4(PNPLA2):c.1052+19dup rs764633798 0.00001
NM_020376.4(PNPLA2):c.1056G>A (p.Leu352=) rs1228238540 0.00001
NM_020376.4(PNPLA2):c.1182G>A (p.Pro394=) rs374839788 0.00001
NM_020376.4(PNPLA2):c.1359C>T (p.Ala453=) rs1845824125 0.00001
NM_020376.4(PNPLA2):c.1392C>T (p.Pro464=) rs779795122 0.00001
NM_020376.4(PNPLA2):c.1419C>T (p.Asp473=) rs1411935581 0.00001
NM_020376.4(PNPLA2):c.1437C>T (p.His479=) rs1845829794 0.00001
NM_020376.4(PNPLA2):c.1455C>T (p.Ala485=) rs1483219787 0.00001
NM_020376.4(PNPLA2):c.1479C>T (p.Pro493=) rs1304582611 0.00001
NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=) rs1434319423 0.00001
NM_020376.4(PNPLA2):c.282C>T (p.Ile94=) rs550573490 0.00001
NM_020376.4(PNPLA2):c.396C>T (p.Phe132=) rs780895511 0.00001
NM_020376.4(PNPLA2):c.421-17C>T rs111872081 0.00001
NM_020376.4(PNPLA2):c.462C>T (p.Leu154=) rs780395638 0.00001
NM_020376.4(PNPLA2):c.486+15C>T rs748057424 0.00001
NM_020376.4(PNPLA2):c.486+9T>G rs774288999 0.00001
NM_020376.4(PNPLA2):c.528T>C (p.Tyr176=) rs753011020 0.00001
NM_020376.4(PNPLA2):c.609C>T (p.His203=) rs199847643 0.00001
NM_020376.4(PNPLA2):c.687G>A (p.Pro229=) rs371893260 0.00001
NM_020376.4(PNPLA2):c.735C>T (p.Gly245=) rs760492844 0.00001
NM_020376.4(PNPLA2):c.781T>C (p.Leu261=) rs758918583 0.00001
NM_020376.4(PNPLA2):c.846C>T (p.Ala282=) rs1212871874 0.00001
NM_020376.4(PNPLA2):c.912C>A (p.Leu304=) rs886048710 0.00001
NM_020376.4(PNPLA2):c.96C>T (p.His32=) rs989353648 0.00001
NM_020376.4(PNPLA2):c.102C>T (p.Pro34=) rs913793983
NM_020376.4(PNPLA2):c.1036C>T (p.Leu346=) rs1188969407
NM_020376.4(PNPLA2):c.1041C>T (p.Ser347=)
NM_020376.4(PNPLA2):c.1047C>T (p.Thr349=) rs1425174344
NM_020376.4(PNPLA2):c.1053-10C>A
NM_020376.4(PNPLA2):c.1053-13G>C
NM_020376.4(PNPLA2):c.1053-14C>T
NM_020376.4(PNPLA2):c.1053-16C>G
NM_020376.4(PNPLA2):c.1053-17G>A
NM_020376.4(PNPLA2):c.1053-18C>T
NM_020376.4(PNPLA2):c.1053-20G>A rs1429297489
NM_020376.4(PNPLA2):c.1053-5C>G
NM_020376.4(PNPLA2):c.1074C>T (p.Asp358=)
NM_020376.4(PNPLA2):c.1101G>A (p.Lys367=) rs1364118559
NM_020376.4(PNPLA2):c.1116C>T (p.Ser372=) rs768832340
NM_020376.4(PNPLA2):c.1122C>T (p.Cys374=)
NM_020376.4(PNPLA2):c.1128C>T (p.Tyr376=)
NM_020376.4(PNPLA2):c.1164C>T (p.His388=) rs1845798979
NM_020376.4(PNPLA2):c.1175+18C>A rs781441450
NM_020376.4(PNPLA2):c.1176-4G>T rs1845808733
NM_020376.4(PNPLA2):c.1176-6_1176-5del rs756078486
NM_020376.4(PNPLA2):c.117C>T (p.Asn39=) rs1449869256
NM_020376.4(PNPLA2):c.1191G>A (p.Val397=)
NM_020376.4(PNPLA2):c.1194G>A (p.Glu398=) rs942439400
NM_020376.4(PNPLA2):c.1203C>T (p.Arg401=)
NM_020376.4(PNPLA2):c.1212G>A (p.Ser404=)
NM_020376.4(PNPLA2):c.1218G>T (p.Pro406=) rs764844801
NM_020376.4(PNPLA2):c.1227G>A (p.Pro409=)
NM_020376.4(PNPLA2):c.123G>T (p.Thr41=)
NM_020376.4(PNPLA2):c.1248A>G (p.Arg416=) rs1207859994
NM_020376.4(PNPLA2):c.1260C>T (p.Pro420=) rs986337866
NM_020376.4(PNPLA2):c.1278C>T (p.Asn426=)
NM_020376.4(PNPLA2):c.1293C>T (p.Asp431=) rs61876745
NM_020376.4(PNPLA2):c.1302C>T (p.Ala434=)
NM_020376.4(PNPLA2):c.1320G>A (p.Gln440=) rs754298378
NM_020376.4(PNPLA2):c.1332G>T (p.Leu444=) rs747260844
NM_020376.4(PNPLA2):c.1335C>G (p.Leu445=)
NM_020376.4(PNPLA2):c.1338C>T (p.Gly446=)
NM_020376.4(PNPLA2):c.1350C>A (p.Thr450=) rs1456812776
NM_020376.4(PNPLA2):c.1365G>T (p.Pro455=)
NM_020376.4(PNPLA2):c.1375C>T (p.Leu459=)
NM_020376.4(PNPLA2):c.138C>T (p.Ala46=)
NM_020376.4(PNPLA2):c.1395C>G (p.Ala465=)
NM_020376.4(PNPLA2):c.1404T>C (p.Ala468=)
NM_020376.4(PNPLA2):c.1413C>A (p.Pro471=)
NM_020376.4(PNPLA2):c.1413C>G (p.Pro471=)
NM_020376.4(PNPLA2):c.1428C>T (p.Ser476=) rs1344983619
NM_020376.4(PNPLA2):c.1430C>G (p.Pro477Arg) rs142588621
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu) rs142588621
NM_020376.4(PNPLA2):c.1446C>T (p.Ala482=)
NM_020376.4(PNPLA2):c.1458_1459delinsTC (p.Pro486_Leu487=) rs886038654
NM_020376.4(PNPLA2):c.1464G>A (p.Leu488=)
NM_020376.4(PNPLA2):c.1476T>G (p.Ala492=)
NM_020376.4(PNPLA2):c.165G>C (p.Ala55=) rs761885395
NM_020376.4(PNPLA2):c.165G>T (p.Ala55=) rs761885395
NM_020376.4(PNPLA2):c.171C>T (p.Val57=)
NM_020376.4(PNPLA2):c.177G>C (p.Gly59=) rs917822758
NM_020376.4(PNPLA2):c.188-4C>T
NM_020376.4(PNPLA2):c.18G>A (p.Lys6=)
NM_020376.4(PNPLA2):c.241C>T (p.Leu81=)
NM_020376.4(PNPLA2):c.250C>T (p.Leu84=)
NM_020376.4(PNPLA2):c.258C>T (p.Pro86=) rs1590175294
NM_020376.4(PNPLA2):c.267C>T (p.Asn89=) rs765218411
NM_020376.4(PNPLA2):c.33G>C (p.Ser11=)
NM_020376.4(PNPLA2):c.381C>A (p.Val127=) rs758441632
NM_020376.4(PNPLA2):c.393C>T (p.His131=)
NM_020376.4(PNPLA2):c.414C>T (p.Leu138=) rs2133847303
NM_020376.4(PNPLA2):c.420+14G>A
NM_020376.4(PNPLA2):c.421-12C>T
NM_020376.4(PNPLA2):c.421-5T>C rs1590175591
NM_020376.4(PNPLA2):c.421-9G>T
NM_020376.4(PNPLA2):c.426T>C (p.Asn142=)
NM_020376.4(PNPLA2):c.441C>T (p.Phe147=)
NM_020376.4(PNPLA2):c.453C>T (p.Tyr151=) rs1565086867
NM_020376.4(PNPLA2):c.483G>C (p.Gly161=)
NM_020376.4(PNPLA2):c.487-15T>C rs749452055
NM_020376.4(PNPLA2):c.487-15T>G rs749452055
NM_020376.4(PNPLA2):c.487-18_487-15del
NM_020376.4(PNPLA2):c.487-7G>A rs372342635
NM_020376.4(PNPLA2):c.543C>T (p.Thr181=)
NM_020376.4(PNPLA2):c.60C>T (p.Val20=)
NM_020376.4(PNPLA2):c.675C>T (p.Ala225=)
NM_020376.4(PNPLA2):c.684G>T (p.Pro228=) rs764373378
NM_020376.4(PNPLA2):c.693C>G (p.Pro231=) rs1230564040
NM_020376.4(PNPLA2):c.696+14C>G
NM_020376.4(PNPLA2):c.696+14C>T
NM_020376.4(PNPLA2):c.696+15_696+16delinsAG rs2133848170
NM_020376.4(PNPLA2):c.696+18G>A
NM_020376.4(PNPLA2):c.696+18G>C rs199498817
NM_020376.4(PNPLA2):c.696+19A>G
NM_020376.4(PNPLA2):c.697-10_697-8del rs2133849127
NM_020376.4(PNPLA2):c.697-15C>A
NM_020376.4(PNPLA2):c.697-15C>T
NM_020376.4(PNPLA2):c.738G>A (p.Leu246=)
NM_020376.4(PNPLA2):c.753G>A (p.Arg251=)
NM_020376.4(PNPLA2):c.756C>A (p.Asn252Lys) rs140201358
NM_020376.4(PNPLA2):c.757+11C>A
NM_020376.4(PNPLA2):c.757+13G>A
NM_020376.4(PNPLA2):c.757+14G>A
NM_020376.4(PNPLA2):c.757+15G>A
NM_020376.4(PNPLA2):c.757+15del
NM_020376.4(PNPLA2):c.757+15dup rs758705623
NM_020376.4(PNPLA2):c.757+20_757+33dup
NM_020376.4(PNPLA2):c.757+7G>A
NM_020376.4(PNPLA2):c.757+9A>C rs941419840
NM_020376.4(PNPLA2):c.758-10C>G
NM_020376.4(PNPLA2):c.758-10C>T
NM_020376.4(PNPLA2):c.758-14C>T
NM_020376.4(PNPLA2):c.758-20C>T
NM_020376.4(PNPLA2):c.763C>T (p.Leu255=)
NM_020376.4(PNPLA2):c.771G>A (p.Arg257=)
NM_020376.4(PNPLA2):c.783G>A (p.Leu261=) rs1160479430
NM_020376.4(PNPLA2):c.789G>A (p.Ala263=) rs757398905
NM_020376.4(PNPLA2):c.792G>A (p.Leu264=)
NM_020376.4(PNPLA2):c.795C>G (p.Pro265=) rs1277889005
NM_020376.4(PNPLA2):c.795C>T (p.Pro265=)
NM_020376.4(PNPLA2):c.828C>T (p.Asp276=) rs1845759161
NM_020376.4(PNPLA2):c.843C>T (p.Ser281=)
NM_020376.4(PNPLA2):c.852G>A (p.Ala284=) rs968664320
NM_020376.4(PNPLA2):c.868C>T (p.Leu290=)
NM_020376.4(PNPLA2):c.873C>A (p.Pro291=) rs1135628
NM_020376.4(PNPLA2):c.906C>T (p.Ala302=)
NM_020376.4(PNPLA2):c.912C>T (p.Leu304=) rs886048710
NM_020376.4(PNPLA2):c.918G>A (p.Glu306=) rs201065998
NM_020376.4(PNPLA2):c.919+18G>A
NM_020376.4(PNPLA2):c.919+18G>C rs375257985
NM_020376.4(PNPLA2):c.919+18G>T
NM_020376.4(PNPLA2):c.919+20del
NM_020376.4(PNPLA2):c.919+21_919+24del
NM_020376.4(PNPLA2):c.919+8C>T rs2133849779
NM_020376.4(PNPLA2):c.919+9C>A rs1380408019
NM_020376.4(PNPLA2):c.920-18C>A rs376110963
NM_020376.4(PNPLA2):c.920-20G>A
NM_020376.4(PNPLA2):c.920-5C>T
NM_020376.4(PNPLA2):c.921C>G (p.Ala307=)
NM_020376.4(PNPLA2):c.925C>T (p.Leu309=) rs2133850042
NM_020376.4(PNPLA2):c.927G>A (p.Leu309=)
NM_020376.4(PNPLA2):c.936C>T (p.Cys312=) rs2133850053
NM_020376.4(PNPLA2):c.939G>A (p.Val313=) rs1251036549
NM_020376.4(PNPLA2):c.951C>T (p.Asp317=)
NM_020376.4(PNPLA2):c.963C>T (p.Thr321=)

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