ClinVar Miner

List of variants studied for Wolman disease by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 435
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.112-304G>A rs2246833 0.37475
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_000235.4(LIPA):c.894+7A>G rs12255537 0.00545
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_000235.4(LIPA):c.539-17G>A rs41284118 0.00110
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.889A>G (p.Ser297Gly) rs147426329 0.00061
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.230-4T>C rs778642279 0.00034
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.662A>G (p.Asp221Gly) rs145163592 0.00014
NM_000235.4(LIPA):c.1068A>G (p.Leu356=) rs137932212 0.00013
NM_000235.4(LIPA):c.429-8G>T rs112248349 0.00013
NM_000235.4(LIPA):c.676-23T>C rs140488274 0.00011
NM_000235.4(LIPA):c.111+20G>A rs761942544 0.00009
NM_000235.4(LIPA):c.380G>A (p.Arg127Gln) rs544080483 0.00009
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer) rs756016704 0.00008
NM_000235.4(LIPA):c.483T>C (p.Asn161=) rs369755163 0.00008
NM_000235.4(LIPA):c.654A>G (p.Arg218=) rs773232583 0.00008
NM_000235.4(LIPA):c.1023C>T (p.Ser341=) rs747984396 0.00007
NM_000235.4(LIPA):c.265C>T (p.Leu89=) rs1359982254 0.00007
NM_000235.4(LIPA):c.372C>G (p.Thr124=) rs532740212 0.00007
NM_000235.4(LIPA):c.1119G>A (p.Glu373=) rs745997462 0.00006
NM_000235.4(LIPA):c.539-3C>T rs376809019 0.00006
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.1024G>A (p.Gly342Arg) rs776472526 0.00004
NM_000235.4(LIPA):c.112-17G>A rs368249630 0.00004
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) rs779712562 0.00004
NM_000235.4(LIPA):c.657A>G (p.Leu219=) rs748624841 0.00004
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720 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.807G>C (p.Glu269Asp) rs746973509 0.00004
NM_000235.4(LIPA):c.823-17A>G rs747852495 0.00004
NM_000235.4(LIPA):c.967-13C>A rs762226885 0.00004
NM_000235.4(LIPA):c.111+13A>G rs375237841 0.00003
NM_000235.4(LIPA):c.1110G>A (p.Pro370=) rs1381270290 0.00003
NM_000235.4(LIPA):c.232C>A (p.Pro78Thr) rs903291078 0.00003
NM_000235.4(LIPA):c.42C>T (p.Leu14=) rs1314994550 0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107 0.00003
NM_000235.4(LIPA):c.895-7T>C rs756396844 0.00003
NM_000235.4(LIPA):c.1077G>A (p.Gln359=) rs538507117 0.00002
NM_000235.4(LIPA):c.12G>T (p.Arg4=) rs773109434 0.00002
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806 0.00002
NM_000235.4(LIPA):c.303C>T (p.Asn101=) rs751696669 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.823-13A>G rs376284950 0.00002
NM_000235.4(LIPA):c.1008G>A (p.Pro336=) rs376895620 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.1053C>T (p.Tyr351=) rs754591708 0.00001
NM_000235.4(LIPA):c.1056C>T (p.Asp352=) rs1564748504 0.00001
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869 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.1188G>A (p.Arg396=) rs750001661 0.00001
NM_000235.4(LIPA):c.135A>T (p.Gly45=) rs760789213 0.00001
NM_000235.4(LIPA):c.183G>C (p.Leu61=) rs1843014996 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000235.4(LIPA):c.279T>C (p.Ser93=) rs1011619050 0.00001
NM_000235.4(LIPA):c.27G>C (p.Val9=) rs768712010 0.00001
NM_000235.4(LIPA):c.288C>T (p.Val96=) rs1842797794 0.00001
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys) rs767688436 0.00001
NM_000235.4(LIPA):c.310C>T (p.Leu104=) rs1040073824 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.390G>A (p.Lys130=) rs200684543 0.00001
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter) rs1457072724 0.00001
NM_000235.4(LIPA):c.428+7del rs773321041 0.00001
NM_000235.4(LIPA):c.428+9G>T rs376015823 0.00001
NM_000235.4(LIPA):c.429-7A>T rs377215072 0.00001
NM_000235.4(LIPA):c.43T>C (p.Trp15Arg) rs758797771 0.00001
NM_000235.4(LIPA):c.455T>C (p.Leu152Pro) rs748267444 0.00001
NM_000235.4(LIPA):c.492C>T (p.Gly164=) rs761751211 0.00001
NM_000235.4(LIPA):c.558G>T (p.Gln186His) rs1357894906 0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086 0.00001
NM_000235.4(LIPA):c.630T>C (p.Thr210=) rs1253166155 0.00001
NM_000235.4(LIPA):c.633C>T (p.Ser211=) rs1326596129 0.00001
NM_000235.4(LIPA):c.63G>A (p.Gly21=) rs1218489545 0.00001
NM_000235.4(LIPA):c.652C>T (p.Arg218Ter) rs771330022 0.00001
NM_000235.4(LIPA):c.669C>T (p.Leu223=) rs932100691 0.00001
NM_000235.4(LIPA):c.675+11C>A rs376016241 0.00001
NM_000235.4(LIPA):c.675+2T>G rs1564753490 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.738C>T (p.His246=) rs1043989532 0.00001
NM_000235.4(LIPA):c.746C>T (p.Thr249Ile) rs373857537 0.00001
NM_000235.4(LIPA):c.761A>T (p.Lys254Met) rs779125462 0.00001
NM_000235.4(LIPA):c.822+1G>A rs1204744283 0.00001
NM_000235.4(LIPA):c.831G>A (p.Val277=) rs746566896 0.00001
NM_000235.4(LIPA):c.852T>G (p.Ser284=) rs778780317 0.00001
NM_000235.4(LIPA):c.870G>A (p.Val290=) rs756950169 0.00001
NM_000235.4(LIPA):c.912G>A (p.Lys304=) rs541939423 0.00001
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp) rs754964952 0.00001
NM_000235.4(LIPA):c.987T>C (p.Asn329=) rs1470771203 0.00001
NM_000235.4(LIPA):c.996C>T (p.Asp332=) rs773803446 0.00001
NC_000010.10:g.(?_90974565)_(91007425_?)del
NC_000010.10:g.(?_90974575)_(90975776_?)del
NC_000010.10:g.(?_90974585)_(91222335_?)dup
NC_000010.10:g.(?_90982258)_(90988165_?)del
NC_000010.10:g.(?_91005423)_(91007415_?)del
NC_000010.11:g.(?_89214808)_(89216029_?)del
NC_000010.11:g.(?_89228190)_(89228408_?)del
NM_000235.4(LIPA):c.1002T>C (p.Leu334=) rs1842606079
NM_000235.4(LIPA):c.1004T>C (p.Val335Ala)
NM_000235.4(LIPA):c.1005G>A (p.Val335=) rs1564748606
NM_000235.4(LIPA):c.1007C>T (p.Pro336Leu)
NM_000235.4(LIPA):c.1020G>T (p.Trp340Cys) rs1842605430
NM_000235.4(LIPA):c.1024G>C (p.Gly342Arg) rs776472526
NM_000235.4(LIPA):c.1026G>C (p.Gly342=)
NM_000235.4(LIPA):c.1027_1029dup (p.Gly343dup) rs2133411859
NM_000235.4(LIPA):c.1028G>A (p.Gly343Asp)
NM_000235.4(LIPA):c.1031A>G (p.His344Arg)
NM_000235.4(LIPA):c.1032C>G (p.His344Gln) rs779601441
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.1035C>T (p.Asp345=) rs2133411821
NM_000235.4(LIPA):c.1039C>A (p.Leu347Ile) rs1455189146
NM_000235.4(LIPA):c.1043C>T (p.Ala348Val) rs757819577
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del) rs767207643
NM_000235.4(LIPA):c.1059C>T (p.Val353=) rs1589548205
NM_000235.4(LIPA):c.1066T>C (p.Leu356=) rs1281069681
NM_000235.4(LIPA):c.1067T>G (p.Leu356Ter) rs2133411704
NM_000235.4(LIPA):c.1071G>A (p.Leu357=) rs1589548180
NM_000235.4(LIPA):c.1083C>T (p.Thr361=) rs753553813
NM_000235.4(LIPA):c.1105A>G (p.Ile369Val)
NM_000235.4(LIPA):c.1108C>G (p.Pro370Ala)
NM_000235.4(LIPA):c.1109C>T (p.Pro370Leu)
NM_000235.4(LIPA):c.111+16T>C
NM_000235.4(LIPA):c.111+19T>A
NM_000235.4(LIPA):c.111+19T>C rs2133467761
NM_000235.4(LIPA):c.111+8T>C
NM_000235.4(LIPA):c.112-18C>T
NM_000235.4(LIPA):c.112-1G>C
NM_000235.4(LIPA):c.112-4A>G
NM_000235.4(LIPA):c.112-6C>A
NM_000235.4(LIPA):c.1122T>C (p.His374=)
NM_000235.4(LIPA):c.1125T>G (p.Leu375=)
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr) rs778013279
NM_000235.4(LIPA):c.1140C>T (p.Gly380=) rs1842601536
NM_000235.4(LIPA):c.1145A>T (p.Asp382Val)
NM_000235.4(LIPA):c.1158G>A (p.Arg386=)
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser) rs529668674
NM_000235.4(LIPA):c.1174A>T (p.Ile392Phe) rs1842600415
NM_000235.4(LIPA):c.1179T>C (p.Asn393=) rs1842600280
NM_000235.4(LIPA):c.1185G>A (p.Met395Ile) rs1842600141
NM_000235.4(LIPA):c.1193A>G (p.Tyr398Cys) rs2133411240
NM_000235.4(LIPA):c.1194T>C (p.Tyr398=)
NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter) rs121965087
NM_000235.4(LIPA):c.130T>G (p.Trp44Gly)
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)
NM_000235.4(LIPA):c.132G>A (p.Trp44Ter)
NM_000235.4(LIPA):c.134G>C (p.Gly45Ala)
NM_000235.4(LIPA):c.138C>T (p.Phe46=)
NM_000235.4(LIPA):c.140C>A (p.Pro47His) rs775608408
NM_000235.4(LIPA):c.143G>T (p.Ser48Ile) rs1289804335
NM_000235.4(LIPA):c.144T>C (p.Ser48=)
NM_000235.4(LIPA):c.150A>G (p.Glu50=)
NM_000235.4(LIPA):c.158T>A (p.Val53Asp)
NM_000235.4(LIPA):c.16T>C (p.Leu6=)
NM_000235.4(LIPA):c.174A>G (p.Gly58=)
NM_000235.4(LIPA):c.176A>G (p.Tyr59Cys)
NM_000235.4(LIPA):c.177T>C (p.Tyr59=) rs2133464296
NM_000235.4(LIPA):c.183G>A (p.Leu61=)
NM_000235.4(LIPA):c.185G>T (p.Cys62Phe)
NM_000235.4(LIPA):c.186C>T (p.Cys62=) rs902722005
NM_000235.4(LIPA):c.192C>T (p.Asn64=)
NM_000235.4(LIPA):c.195A>G (p.Arg65=)
NM_000235.4(LIPA):c.203A>G (p.His68Arg)
NM_000235.4(LIPA):c.204T>G (p.His68Gln)
NM_000235.4(LIPA):c.21G>C (p.Gly7=)
NM_000235.4(LIPA):c.225C>T (p.Asp75=) rs2133464059
NM_000235.4(LIPA):c.229+10G>A rs2133463997
NM_000235.4(LIPA):c.229+10G>T rs2133463997
NM_000235.4(LIPA):c.229+11G>T
NM_000235.4(LIPA):c.229+12C>T
NM_000235.4(LIPA):c.229+13T>C
NM_000235.4(LIPA):c.229+20A>C
NM_000235.4(LIPA):c.229+7G>A
NM_000235.4(LIPA):c.229+9del rs1399049755
NM_000235.4(LIPA):c.230-15A>G rs199978109
NM_000235.4(LIPA):c.230-16A>C
NM_000235.4(LIPA):c.230-18A>C
NM_000235.4(LIPA):c.230-20A>G
NM_000235.4(LIPA):c.230-2del
NM_000235.4(LIPA):c.237A>G (p.Lys79=) rs2133436869
NM_000235.4(LIPA):c.245T>C (p.Val82Ala) rs1298273048
NM_000235.4(LIPA):c.245del (p.Val82fs)
NM_000235.4(LIPA):c.246C>T (p.Val82=) rs2133436821
NM_000235.4(LIPA):c.249C>T (p.Phe83=) rs2133436811
NM_000235.4(LIPA):c.252G>T (p.Leu84=) rs2133436797
NM_000235.4(LIPA):c.253C>A (p.Gln85Lys) rs797045094
NM_000235.4(LIPA):c.254A>G (p.Gln85Arg) rs1589558414
NM_000235.4(LIPA):c.257A>G (p.His86Arg) rs1842798350
NM_000235.4(LIPA):c.264G>A (p.Leu88=) rs755847301
NM_000235.4(LIPA):c.264G>T (p.Leu88Phe)
NM_000235.4(LIPA):c.267G>T (p.Leu89=)
NM_000235.4(LIPA):c.276T>C (p.Ser92=) rs2133436705
NM_000235.4(LIPA):c.282C>A (p.Asn94Lys)
NM_000235.4(LIPA):c.293_295del (p.Asn98_Leu99delinsIle)
NM_000235.4(LIPA):c.302A>G (p.Asn101Ser)
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) rs766364179
NM_000235.4(LIPA):c.30C>G (p.Val10=) rs1843045493
NM_000235.4(LIPA):c.33T>C (p.Cys11=)
NM_000235.4(LIPA):c.345G>A (p.Val115=)
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly) rs912441212
NM_000235.4(LIPA):c.365G>T (p.Gly122Val)
NM_000235.4(LIPA):c.366A>G (p.Gly122=)
NM_000235.4(LIPA):c.369T>C (p.Asn123=)
NM_000235.4(LIPA):c.379C>A (p.Arg127=)
NM_000235.4(LIPA):c.37G>A (p.Val13Ile)
NM_000235.4(LIPA):c.37del (p.Val13fs) rs2133468040
NM_000235.4(LIPA):c.392C>A (p.Thr131Lys)
NM_000235.4(LIPA):c.402T>G (p.Val134=) rs2133436164
NM_000235.4(LIPA):c.404C>T (p.Ser135Phe)
NM_000235.4(LIPA):c.406C>T (p.Gln136Ter) rs1842794747
NM_000235.4(LIPA):c.408G>A (p.Gln136=)
NM_000235.4(LIPA):c.416T>G (p.Phe139Cys) rs2133436092
NM_000235.4(LIPA):c.417C>T (p.Phe139=)
NM_000235.4(LIPA):c.423T>C (p.Ala141=) rs2133436048
NM_000235.4(LIPA):c.423T>G (p.Ala141=) rs2133436048
NM_000235.4(LIPA):c.428+12T>C
NM_000235.4(LIPA):c.428+2T>C
NM_000235.4(LIPA):c.428+7A>G rs2133436002
NM_000235.4(LIPA):c.428+8T>G rs554238064
NM_000235.4(LIPA):c.428+9G>C rs376015823
NM_000235.4(LIPA):c.429-15T>C
NM_000235.4(LIPA):c.429-16C>T
NM_000235.4(LIPA):c.429-18T>C
NM_000235.4(LIPA):c.429-19T>C
NM_000235.4(LIPA):c.429-8G>A rs112248349
NM_000235.4(LIPA):c.42C>G (p.Leu14=) rs1314994550
NM_000235.4(LIPA):c.432T>C (p.Tyr144=)
NM_000235.4(LIPA):c.444A>G (p.Ala148=)
NM_000235.4(LIPA):c.450T>C (p.Tyr150=)
NM_000235.4(LIPA):c.459A>G (p.Pro153=)
NM_000235.4(LIPA):c.468T>C (p.Ile156=) rs1589556945
NM_000235.4(LIPA):c.471C>T (p.Asn157=)
NM_000235.4(LIPA):c.478C>T (p.Leu160=)
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.489T>C (p.Thr163=) rs2133433185
NM_000235.4(LIPA):c.48C>T (p.Thr16=)
NM_000235.4(LIPA):c.498A>G (p.Glu166=)
NM_000235.4(LIPA):c.504G>T (p.Val168=) rs2133433160
NM_000235.4(LIPA):c.507T>C (p.Tyr169=)
NM_000235.4(LIPA):c.511G>T (p.Val171Leu)
NM_000235.4(LIPA):c.511del (p.Val171fs)
NM_000235.4(LIPA):c.521C>T (p.Ser174Phe) rs1842777072
NM_000235.4(LIPA):c.534T>C (p.Thr178=) rs746817834
NM_000235.4(LIPA):c.538+17G>A
NM_000235.4(LIPA):c.538+20C>T
NM_000235.4(LIPA):c.538+4T>A rs779872404
NM_000235.4(LIPA):c.538+5G>A
NM_000235.4(LIPA):c.538+7A>T rs2133432994
NM_000235.4(LIPA):c.539-11T>C
NM_000235.4(LIPA):c.539-12T>C
NM_000235.4(LIPA):c.539-16T>C
NM_000235.4(LIPA):c.539-20dup
NM_000235.4(LIPA):c.539-2A>G rs762143630
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000235.4(LIPA):c.539-5C>G
NM_000235.4(LIPA):c.539-5C>T rs2297472
NM_000235.4(LIPA):c.539-6_539-5delinsCT rs1589555777
NM_000235.4(LIPA):c.539-7C>G
NM_000235.4(LIPA):c.539-7C>T
NM_000235.4(LIPA):c.539-8T>C
NM_000235.4(LIPA):c.547G>T (p.Ala183Ser)
NM_000235.4(LIPA):c.549A>T (p.Ala183=) rs746094174
NM_000235.4(LIPA):c.558G>A (p.Gln186=)
NM_000235.4(LIPA):c.566A>C (p.Glu189Ala) rs2133429645
NM_000235.4(LIPA):c.56C>T (p.Ser19Phe)
NM_000235.4(LIPA):c.591T>G (p.Phe197Leu)
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.600G>A (p.Leu200=) rs1172318248
NM_000235.4(LIPA):c.600G>C (p.Leu200=)
NM_000235.4(LIPA):c.600_603dup (p.Pro202fs) rs2133429569
NM_000235.4(LIPA):c.611C>T (p.Ala204Val)
NM_000235.4(LIPA):c.615C>A (p.Ser205=)
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.617_619dup (p.Val206dup) rs2133429462
NM_000235.4(LIPA):c.618C>G (p.Val206=) rs763651849
NM_000235.4(LIPA):c.618C>T (p.Val206=) rs763651849
NM_000235.4(LIPA):c.618_627del (p.Ala207fs)
NM_000235.4(LIPA):c.618dup (p.Ala207fs)
NM_000235.4(LIPA):c.619G>A (p.Ala207Thr)
NM_000235.4(LIPA):c.621C>A (p.Ala207=) rs373314455
NM_000235.4(LIPA):c.624C>G (p.Phe208Leu)
NM_000235.4(LIPA):c.636T>C (p.Pro212=)
NM_000235.4(LIPA):c.637A>T (p.Met213Leu)
NM_000235.4(LIPA):c.648A>C (p.Leu216Phe)
NM_000235.4(LIPA):c.653G>A (p.Arg218Gln)
NM_000235.4(LIPA):c.656T>G (p.Leu219Ter) rs1554865576
NM_000235.4(LIPA):c.658C>T (p.Pro220Ser)
NM_000235.4(LIPA):c.660A>C (p.Pro220=) rs2133429315
NM_000235.4(LIPA):c.660A>G (p.Pro220=) rs2133429315
NM_000235.4(LIPA):c.666T>A (p.His222Gln)
NM_000235.4(LIPA):c.667C>T (p.Leu223Phe) rs1161698310
NM_000235.4(LIPA):c.669C>A (p.Leu223=) rs932100691
NM_000235.4(LIPA):c.675+11C>T
NM_000235.4(LIPA):c.675+12C>T
NM_000235.4(LIPA):c.675+13C>T
NM_000235.4(LIPA):c.675+19T>C
NM_000235.4(LIPA):c.675+7G>C rs2133429253
NM_000235.4(LIPA):c.676-14T>A rs886047471
NM_000235.4(LIPA):c.676-19G>A rs2133427422
NM_000235.4(LIPA):c.676-19G>C
NM_000235.4(LIPA):c.676-19G>T
NM_000235.4(LIPA):c.676-2A>T rs747508159
NM_000235.4(LIPA):c.676-4G>T
NM_000235.4(LIPA):c.676-9A>G rs2133427412
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser) rs2228159
NM_000235.4(LIPA):c.684del (p.Phe228fs) rs770074196
NM_000235.4(LIPA):c.687A>G (p.Gly229=)
NM_000235.4(LIPA):c.690C>T (p.Asp230=) rs1409978506
NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)
NM_000235.4(LIPA):c.697T>C (p.Phe233Leu)
NM_000235.4(LIPA):c.699T>C (p.Phe233=)
NM_000235.4(LIPA):c.69A>G (p.Gly23=) rs1843044295
NM_000235.4(LIPA):c.6A>G (p.Lys2=) rs138408240
NM_000235.4(LIPA):c.705C>G (p.Pro235=) rs1203005431
NM_000235.4(LIPA):c.705C>T (p.Pro235=)
NM_000235.4(LIPA):c.712G>A (p.Ala238Thr) rs1842732425
NM_000235.4(LIPA):c.714G>T (p.Ala238=)
NM_000235.4(LIPA):c.718T>C (p.Leu240=)
NM_000235.4(LIPA):c.723G>A (p.Lys241=)
NM_000235.4(LIPA):c.729G>T (p.Leu243=) rs1422320148
NM_000235.4(LIPA):c.732T>A (p.Gly244=)
NM_000235.4(LIPA):c.735C>T (p.Thr245=)
NM_000235.4(LIPA):c.739G>A (p.Val247Ile)
NM_000235.4(LIPA):c.744C>T (p.Cys248=) rs761924047
NM_000235.4(LIPA):c.749A>C (p.His250Pro) rs747792993
NM_000235.4(LIPA):c.749A>G (p.His250Arg)
NM_000235.4(LIPA):c.770G>A (p.Cys257Tyr)
NM_000235.4(LIPA):c.771T>C (p.Cys257=)
NM_000235.4(LIPA):c.771_774del (p.Leu256_Cys257insTer) rs2133427073
NM_000235.4(LIPA):c.780_781del (p.Cys261fs)
NM_000235.4(LIPA):c.781T>C (p.Cys261Arg) rs1842730482
NM_000235.4(LIPA):c.78dup (p.Thr27fs)
NM_000235.4(LIPA):c.792G>C (p.Leu264=) rs780855549
NM_000235.4(LIPA):c.792G>T (p.Leu264=)
NM_000235.4(LIPA):c.798A>T (p.Gly266=) rs1589554283
NM_000235.4(LIPA):c.804del (p.Asn268fs) rs1410809018
NM_000235.4(LIPA):c.813T>C (p.Asn271=) rs1842729565
NM_000235.4(LIPA):c.819T>C (p.Asn273=)
NM_000235.4(LIPA):c.822+13A>T
NM_000235.4(LIPA):c.822+14T>C
NM_000235.4(LIPA):c.822+14_822+15insGC
NM_000235.4(LIPA):c.822+16del
NM_000235.4(LIPA):c.822+1G>T
NM_000235.4(LIPA):c.822+37T>A
NM_000235.4(LIPA):c.822+37del rs752384602
NM_000235.4(LIPA):c.822+37dup rs752384602
NM_000235.4(LIPA):c.822+38A>T
NM_000235.4(LIPA):c.822+7A>G
NM_000235.4(LIPA):c.823-14T>C
NM_000235.4(LIPA):c.823-14del
NM_000235.4(LIPA):c.823-15G>T
NM_000235.4(LIPA):c.823-1G>A
NM_000235.4(LIPA):c.823-2A>G
NM_000235.4(LIPA):c.823-4G>T
NM_000235.4(LIPA):c.831G>T (p.Val277=)
NM_000235.4(LIPA):c.837A>G (p.Val279=) rs2133424899
NM_000235.4(LIPA):c.840T>C (p.Tyr280=)
NM_000235.4(LIPA):c.843A>T (p.Thr281=)
NM_000235.4(LIPA):c.84T>C (p.Ala28=) rs2133467876
NM_000235.4(LIPA):c.850T>C (p.Ser284Pro) rs2133424861
NM_000235.4(LIPA):c.853C>T (p.Pro285Ser) rs1564752079
NM_000235.4(LIPA):c.854del (p.Pro285fs) rs2133424815
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.884A>C (p.His295Pro)
NM_000235.4(LIPA):c.885C>T (p.His295=) rs886044197
NM_000235.4(LIPA):c.890dup (p.Ser297fs)
NM_000235.4(LIPA):c.892C>T (p.Gln298Ter) rs1554865206
NM_000235.4(LIPA):c.892del (p.Gln298fs)
NM_000235.4(LIPA):c.894+10C>T
NM_000235.4(LIPA):c.894+11C>T
NM_000235.4(LIPA):c.894+17T>C
NM_000235.4(LIPA):c.894+18G>A
NM_000235.4(LIPA):c.894+1G>A rs1564751995
NM_000235.4(LIPA):c.894+8T>C
NM_000235.4(LIPA):c.894G>C (p.Gln298His) rs116928232
NM_000235.4(LIPA):c.895-13A>G
NM_000235.4(LIPA):c.895-14T>C
NM_000235.4(LIPA):c.895-16A>G
NM_000235.4(LIPA):c.895-20C>G
NM_000235.4(LIPA):c.895-20C>T
NM_000235.4(LIPA):c.895-3T>A
NM_000235.4(LIPA):c.895-8_895-6del rs2133413717
NM_000235.4(LIPA):c.897T>C (p.Ala299=) rs2133413699
NM_000235.4(LIPA):c.8T>G (p.Met3Arg) rs1589573225
NM_000235.4(LIPA):c.904T>G (p.Phe302Val) rs1187189503
NM_000235.4(LIPA):c.906C>T (p.Phe302=) rs1842621631
NM_000235.4(LIPA):c.921C>G (p.Ala307=)
NM_000235.4(LIPA):c.929G>A (p.Trp310Ter) rs2133413584
NM_000235.4(LIPA):c.939T>C (p.Ser313=) rs1842621064
NM_000235.4(LIPA):c.93T>C (p.Pro31=)
NM_000235.4(LIPA):c.940G>A (p.Ala314Thr)
NM_000235.4(LIPA):c.944A>G (p.Lys315Arg)
NM_000235.4(LIPA):c.948T>C (p.Asn316=) rs2133413524
NM_000235.4(LIPA):c.951T>A (p.Tyr317Ter) rs760413481
NM_000235.4(LIPA):c.956A>C (p.His319Pro) rs1842620342
NM_000235.4(LIPA):c.956A>G (p.His319Arg) rs1842620342
NM_000235.4(LIPA):c.960C>T (p.Tyr320=) rs1554864404
NM_000235.4(LIPA):c.964C>T (p.Gln322Ter)
NM_000235.4(LIPA):c.966+10T>G rs2133413429
NM_000235.4(LIPA):c.966+12A>T
NM_000235.4(LIPA):c.966+14T>C
NM_000235.4(LIPA):c.966+15C>A
NM_000235.4(LIPA):c.966+15C>T
NM_000235.4(LIPA):c.967-13C>T
NM_000235.4(LIPA):c.967-14C>T rs2133412154
NM_000235.4(LIPA):c.967-17G>T
NM_000235.4(LIPA):c.980C>T (p.Thr327Ile)
NM_000235.4(LIPA):c.980del (p.Thr327fs) rs2133412083
NM_000235.4(LIPA):c.981A>G (p.Thr327=)
NM_000235.4(LIPA):c.984C>A (p.Tyr328Ter)
NM_000235.4(LIPA):c.999G>A (p.Met333Ile)
NM_000235.4(LIPA):c.99A>G (p.Thr33=)

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