ClinVar Miner

List of variants studied for Lysosomal acid lipase deficiency

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Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.-1-64G>T rs2250781 0.58801
NM_000235.4(LIPA):c.-2+36G>A rs1332328 0.37602
NM_000235.4(LIPA):c.675+62A>C rs2297473 0.32967
NM_000235.4(LIPA):c.676-42G>A rs1556478 0.32749
NM_000235.4(LIPA):c.966+46C>T rs3802656 0.29308
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_000235.4(LIPA):c.*909T>A rs1131706 0.21939
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_000235.4(LIPA):c.*1093C>T rs13500 0.11269
NM_000235.4(LIPA):c.*1187C>A rs78931290 0.02896
NM_000235.4(LIPA):c.676-72G>C rs113450779 0.00606
NM_000235.4(LIPA):c.894+7A>G rs12255537 0.00545
NM_000235.4(LIPA):c.*608C>T rs9664201 0.00443
NM_000235.4(LIPA):c.*876C>G rs141445686 0.00341
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000235.4(LIPA):c.112-6C>T rs141302830 0.00063
NM_000235.4(LIPA):c.*804C>T rs886047468 0.00060
NM_000235.4(LIPA):c.112-9T>C rs200186130 0.00046
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000235.4(LIPA):c.676-25T>C rs150415734 0.00031
NM_000235.4(LIPA):c.1046A>G (p.Asp349Gly) rs149459699 0.00027
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238 0.00024
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala) rs143793106 0.00022
NM_000235.4(LIPA):c.966+3A>T rs201242614 0.00015
NM_000235.4(LIPA):c.*842G>A rs187138384 0.00014
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly) rs145163592 0.00014
NM_000235.4(LIPA):c.1068A>G (p.Leu356=) rs137932212 0.00013
NM_000235.4(LIPA):c.*557A>C rs942666524 0.00009
NM_000235.4(LIPA):c.380G>A (p.Arg127Gln) rs544080483 0.00009
NM_000235.4(LIPA):c.539-6T>C rs201898154 0.00009
NM_000235.4(LIPA):c.*939G>A rs774820637 0.00008
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer) rs756016704 0.00008
NM_000235.4(LIPA):c.-2+7G>A rs879494219 0.00007
NM_000235.4(LIPA):c.1023C>T (p.Ser341=) rs747984396 0.00007
NM_000235.4(LIPA):c.*151C>T rs767578516 0.00006
NM_000235.4(LIPA):c.*573T>A rs769179666 0.00006
NM_000235.4(LIPA):c.*921C>T rs1179037686 0.00006
NM_000235.4(LIPA):c.1119G>A (p.Glu373=) rs745997462 0.00006
NM_000235.4(LIPA):c.618C>A (p.Val206=) rs763651849 0.00006
NM_000235.4(LIPA):c.*858A>C rs886047467 0.00005
NM_000235.4(LIPA):c.342C>T (p.Asp114=) rs371133960 0.00005
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp) rs140686447 0.00005
NM_000235.4(LIPA):c.*458C>T rs1006504114 0.00004
NM_000235.4(LIPA):c.*991T>G rs886047466 0.00004
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg) rs776472526 0.00004
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) rs779712562 0.00004
NM_000235.4(LIPA):c.76C>T (p.Leu26=) rs377437637 0.00004
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter) rs267607218 0.00004
NM_000235.4(LIPA):c.967-13C>A rs762226885 0.00004
NM_000235.4(LIPA):c.*184T>C rs1338962406 0.00003
NM_000235.4(LIPA):c.111+13A>G rs375237841 0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107 0.00003
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806 0.00002
NM_000235.4(LIPA):c.367A>G (p.Asn123Asp) rs771904218 0.00002
NM_000235.4(LIPA):c.538+6T>C rs772236690 0.00002
NM_000235.4(LIPA):c.579G>A (p.Arg193=) rs777978533 0.00002
NM_000235.4(LIPA):c.*1147C>G rs1245823235 0.00001
NM_000235.4(LIPA):c.*385C>A rs763288984 0.00001
NM_000235.4(LIPA):c.*494A>G rs1003454769 0.00001
NM_000235.4(LIPA):c.*949C>T rs755914073 0.00001
NM_000235.4(LIPA):c.1026G>A (p.Gly342=) rs550415126 0.00001
NM_000235.4(LIPA):c.1050C>T (p.Val350=) rs1249046123 0.00001
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869 0.00001
NM_000235.4(LIPA):c.1079T>A (p.Ile360Asn) rs776294856 0.00001
NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr) rs747214463 0.00001
NM_000235.4(LIPA):c.111+1G>A rs762960877 0.00001
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr) rs367664486 0.00001
NM_000235.4(LIPA):c.1128C>T (p.Asp376=) rs200420117 0.00001
NM_000235.4(LIPA):c.1163A>G (p.Tyr388Cys) rs766062562 0.00001
NM_000235.4(LIPA):c.1171A>G (p.Ile391Val) rs1449941002 0.00001
NM_000235.4(LIPA):c.1188G>A (p.Arg396=) rs750001661 0.00001
NM_000235.4(LIPA):c.229+6G>A rs778866130 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys) rs767688436 0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=) rs1438679981 0.00001
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs) rs753796180 0.00001
NM_000235.4(LIPA):c.386A>G (p.His129Arg) rs1423914418 0.00001
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter) rs1457072724 0.00001
NM_000235.4(LIPA):c.428+3A>G rs369626938 0.00001
NM_000235.4(LIPA):c.455T>C (p.Leu152Pro) rs748267444 0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086 0.00001
NM_000235.4(LIPA):c.605C>T (p.Pro202Leu) rs1393039920 0.00001
NM_000235.4(LIPA):c.6A>T (p.Lys2Asn) rs138408240 0.00001
NM_000235.4(LIPA):c.713C>T (p.Ala238Val) rs886047470 0.00001
NM_000235.4(LIPA):c.746C>T (p.Thr249Ile) rs373857537 0.00001
NM_000235.4(LIPA):c.822+1G>A rs1204744283 0.00001
NM_000235.4(LIPA):c.863C>T (p.Thr288Ile) rs1306336545 0.00001
NM_000235.4(LIPA):c.871C>G (p.Gln291Glu) rs754124986 0.00001
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp) rs754964952 0.00001
NM_000235.4(LIPA):c.974C>T (p.Pro325Leu) rs1326903845 0.00001
NC_000010.11:g.(?_89214808)_(89216029_?)del
NC_000010.11:g.(?_89228180)_(89228418_?)del
NC_000010.11:g.(?_89228190)_(89228408_?)del
NM_000235.4(LIPA):c.*1091T>C rs886047465
NM_000235.4(LIPA):c.*1205T>G rs886047464
NM_000235.4(LIPA):c.*383A>G rs1842593097
NM_000235.4(LIPA):c.*618G>C rs886047469
NM_000235.4(LIPA):c.*841C>G rs116074523
NM_000235.4(LIPA):c.1024G>T (p.Gly342Trp) rs776472526
NM_000235.4(LIPA):c.1025G>T (p.Gly342Val) rs768826988
NM_000235.4(LIPA):c.1032C>T (p.His344=) rs779601441
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn) rs1446626293
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del) rs767207643
NM_000235.4(LIPA):c.1066T>C (p.Leu356=) rs1281069681
NM_000235.4(LIPA):c.111+2T>G rs1554869292
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr) rs778013279
NM_000235.4(LIPA):c.1135T>A (p.Trp379Arg)
NM_000235.4(LIPA):c.1142T>C (p.Leu381Pro) rs1334456405
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser) rs529668674
NM_000235.4(LIPA):c.1167T>C (p.Asn389=) rs1842600689
NM_000235.4(LIPA):c.1180_1184del (p.Leu394fs) rs2133411275
NM_000235.4(LIPA):c.1185G>A (p.Met395Ile) rs1842600141
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)
NM_000235.4(LIPA):c.140C>A (p.Pro47His) rs775608408
NM_000235.4(LIPA):c.149A>G (p.Glu50Gly) rs772137750
NM_000235.4(LIPA):c.158T>G (p.Val53Gly) rs749625288
NM_000235.4(LIPA):c.160G>T (p.Glu54Ter) rs1843015393
NM_000235.4(LIPA):c.170A>G (p.Asp57Gly) rs768411839
NM_000235.4(LIPA):c.170A>T (p.Asp57Val) rs768411839
NM_000235.4(LIPA):c.1A>G (p.Met1Val) rs767039444
NM_000235.4(LIPA):c.226A>T (p.Lys76Ter)
NM_000235.4(LIPA):c.230-15A>G rs199978109
NM_000235.4(LIPA):c.253C>A (p.Gln85Lys) rs797045094
NM_000235.4(LIPA):c.253C>T (p.Gln85Ter) rs797045094
NM_000235.4(LIPA):c.254A>G (p.Gln85Arg) rs1589558414
NM_000235.4(LIPA):c.266T>C (p.Leu89Pro) rs2133436727
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg) rs1554866097
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) rs766364179
NM_000235.4(LIPA):c.313_314del (p.Gly105fs)
NM_000235.4(LIPA):c.316T>A (p.Phe106Ile) rs773533216
NM_000235.4(LIPA):c.356A>G (p.Asn119Ser) rs1589558218
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly) rs912441212
NM_000235.4(LIPA):c.377C>T (p.Ser126Phe) rs1589558169
NM_000235.4(LIPA):c.384del (p.Lys128fs)
NM_000235.4(LIPA):c.386A>C (p.His129Pro) rs1423914418
NM_000235.4(LIPA):c.391A>G (p.Thr131Ala) rs1842795359
NM_000235.4(LIPA):c.417C>A (p.Phe139Leu) rs1589558062
NM_000235.4(LIPA):c.420_421del (p.Trp140fs)
NM_000235.4(LIPA):c.425T>C (p.Phe142Ser)
NM_000235.4(LIPA):c.428+1G>A rs1554866004
NM_000235.4(LIPA):c.428+8T>G rs554238064
NM_000235.4(LIPA):c.435T>A (p.Asp145Glu) rs760901300
NM_000235.4(LIPA):c.447del (p.Lys149fs)
NM_000235.4(LIPA):c.479_480del (p.Leu160fs)
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.50T>C (p.Leu17Pro) rs886047472
NM_000235.4(LIPA):c.521C>T (p.Ser174Phe) rs1842777072
NM_000235.4(LIPA):c.524A>C (p.Gln175Pro)
NM_000235.4(LIPA):c.526G>A (p.Gly176Ser) rs1589556901
NM_000235.4(LIPA):c.538+4T>A rs779872404
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000235.4(LIPA):c.539-5C>T rs2297472
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.600G>A (p.Leu200=) rs1172318248
NM_000235.4(LIPA):c.605_618del (p.Pro202fs)
NM_000235.4(LIPA):c.615C>G (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.615C>T (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.616G>A (p.Val206Ile) rs756878837
NM_000235.4(LIPA):c.647T>A (p.Leu216Ter) rs2133429402
NM_000235.4(LIPA):c.667C>T (p.Leu223Phe) rs1161698310
NM_000235.4(LIPA):c.676-14T>A rs886047471
NM_000235.4(LIPA):c.676-2A>G rs747508159
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser) rs2228159
NM_000235.4(LIPA):c.684del (p.Phe228fs) rs770074196
NM_000235.4(LIPA):c.685G>T (p.Gly229Ter)
NM_000235.4(LIPA):c.805G>T (p.Glu269Ter) rs1842729716
NM_000235.4(LIPA):c.815T>A (p.Leu272Ter) rs1842729511
NM_000235.4(LIPA):c.826A>T (p.Arg276Ter) rs1842714308
NM_000235.4(LIPA):c.851C>T (p.Ser284Phe) rs1261613499
NM_000235.4(LIPA):c.866C>G (p.Ser289Cys) rs1589553174
NM_000235.4(LIPA):c.871C>T (p.Gln291Ter)
NM_000235.4(LIPA):c.877A>C (p.Met293Leu) rs764343762
NM_000235.4(LIPA):c.881T>C (p.Leu294Ser) rs756310979
NM_000235.4(LIPA):c.883C>T (p.His295Tyr) rs1554865214
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter) rs1554865206
NM_000235.4(LIPA):c.894+2T>C rs1554865199
NM_000235.4(LIPA):c.894G>C (p.Gln298His) rs116928232
NM_000235.4(LIPA):c.922T>G (p.Phe308Val) rs751625944
NM_000235.4(LIPA):c.925G>T (p.Asp309Tyr) rs2133413594
NM_000235.4(LIPA):c.929G>A (p.Trp310Ter) rs2133413584
NM_000235.4(LIPA):c.931G>A (p.Gly311Arg) rs1589548972
NM_000235.4(LIPA):c.947A>G (p.Asn316Ser)
NM_000235.4(LIPA):c.960C>A (p.Tyr320Ter) rs1554864404

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