ClinVar Miner

List of variants reported as likely benign for Wolman disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 256
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.754A>T (p.Ile252Leu) rs147493628 0.00140
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.1009A>G (p.Thr337Ala) rs143793106 0.00022
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.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.342C>T (p.Asp114=) rs371133960 0.00005
NM_000235.4(LIPA):c.112-17G>A rs368249630 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.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.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.303C>T (p.Asn101=) rs751696669 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.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.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.310C>T (p.Leu104=) rs1040073824 0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=) rs1438679981 0.00001
NM_000235.4(LIPA):c.390G>A (p.Lys130=) rs200684543 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.492C>T (p.Gly164=) rs761751211 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.669C>T (p.Leu223=) rs932100691 0.00001
NM_000235.4(LIPA):c.675+11C>A rs376016241 0.00001
NM_000235.4(LIPA):c.738C>T (p.His246=) rs1043989532 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.987T>C (p.Asn329=) rs1470771203 0.00001
NM_000235.4(LIPA):c.996C>T (p.Asp332=) rs773803446 0.00001
NM_000235.4(LIPA):c.*841C>G rs116074523
NM_000235.4(LIPA):c.1002T>C (p.Leu334=) rs1842606079
NM_000235.4(LIPA):c.1005G>A (p.Val335=) rs1564748606
NM_000235.4(LIPA):c.1026G>C (p.Gly342=)
NM_000235.4(LIPA):c.1032C>T (p.His344=) rs779601441
NM_000235.4(LIPA):c.1035C>T (p.Asp345=) rs2133411821
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.1071G>A (p.Leu357=) rs1589548180
NM_000235.4(LIPA):c.1083C>T (p.Thr361=) rs753553813
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.112-4A>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.1140C>T (p.Gly380=) rs1842601536
NM_000235.4(LIPA):c.1158G>A (p.Arg386=)
NM_000235.4(LIPA):c.1179T>C (p.Asn393=) rs1842600280
NM_000235.4(LIPA):c.1194T>C (p.Tyr398=)
NM_000235.4(LIPA):c.138C>T (p.Phe46=)
NM_000235.4(LIPA):c.144T>C (p.Ser48=)
NM_000235.4(LIPA):c.150A>G (p.Glu50=)
NM_000235.4(LIPA):c.16T>C (p.Leu6=)
NM_000235.4(LIPA):c.174A>G (p.Gly58=)
NM_000235.4(LIPA):c.177T>C (p.Tyr59=) rs2133464296
NM_000235.4(LIPA):c.183G>A (p.Leu61=)
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.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.237A>G (p.Lys79=) rs2133436869
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.264G>A (p.Leu88=) rs755847301
NM_000235.4(LIPA):c.267G>T (p.Leu89=)
NM_000235.4(LIPA):c.276T>C (p.Ser92=) rs2133436705
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.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.402T>G (p.Val134=) rs2133436164
NM_000235.4(LIPA):c.408G>A (p.Gln136=)
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+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.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.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+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.539-5C>A rs2297472
NM_000235.4(LIPA):c.539-5C>G
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.549A>T (p.Ala183=) rs746094174
NM_000235.4(LIPA):c.558G>A (p.Gln186=)
NM_000235.4(LIPA):c.600G>C (p.Leu200=)
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.618C>G (p.Val206=) rs763651849
NM_000235.4(LIPA):c.618C>T (p.Val206=) rs763651849
NM_000235.4(LIPA):c.621C>A (p.Ala207=) rs373314455
NM_000235.4(LIPA):c.636T>C (p.Pro212=)
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.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.676-4G>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.687A>G (p.Gly229=)
NM_000235.4(LIPA):c.690C>T (p.Asp230=) rs1409978506
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.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.744C>T (p.Cys248=) rs761924047
NM_000235.4(LIPA):c.771T>C (p.Cys257=)
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.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+37T>A
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.823-4G>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.885C>T (p.His295=) rs886044197
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+8T>C
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.895-8_895-6del rs2133413717
NM_000235.4(LIPA):c.897T>C (p.Ala299=) rs2133413699
NM_000235.4(LIPA):c.906C>T (p.Phe302=) rs1842621631
NM_000235.4(LIPA):c.921C>G (p.Ala307=)
NM_000235.4(LIPA):c.939T>C (p.Ser313=) rs1842621064
NM_000235.4(LIPA):c.93T>C (p.Pro31=)
NM_000235.4(LIPA):c.948T>C (p.Asn316=) rs2133413524
NM_000235.4(LIPA):c.960C>T (p.Tyr320=) rs1554864404
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.981A>G (p.Thr327=)
NM_000235.4(LIPA):c.99A>G (p.Thr33=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.