ClinVar Miner

List of variants reported as uncertain significance for Wolman disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.*491A>G rs115701525 0.00359
NM_000235.4(LIPA):c.*508C>T rs116332581 0.00347
NM_000235.3(LIPA):c.-123G>A rs543830356 0.00346
NM_000235.4(LIPA):c.*544G>T rs187747826 0.00344
NM_000235.4(LIPA):c.*876C>G rs141445686 0.00341
NM_000235.4(LIPA):c.*643C>T rs115320174 0.00303
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_000235.3(LIPA):c.-71C>A rs553435176 0.00232
NM_000235.4(LIPA):c.*744C>G rs41284116 0.00188
NM_000235.4(LIPA):c.*1045C>T rs561490465 0.00175
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_000235.4(LIPA):c.*804C>T rs886047468 0.00060
NM_000235.4(LIPA):c.*330T>C rs117967877 0.00052
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000235.4(LIPA):c.1046A>G (p.Asp349Gly) rs149459699 0.00027
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.*534T>C rs142777525 0.00014
NM_000235.3(LIPA):c.-80T>C rs539948724 0.00011
NM_000235.3(LIPA):c.-43G>A rs770899717 0.00010
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.*151C>T rs767578516 0.00006
NM_000235.4(LIPA):c.*573T>A rs769179666 0.00006
NM_000235.4(LIPA):c.539-3C>T rs376809019 0.00006
NM_000235.4(LIPA):c.*858A>C rs886047467 0.00005
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp) rs140686447 0.00005
NM_000235.4(LIPA):c.*991T>G rs886047466 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.232C>A (p.Pro78Thr) rs903291078 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.*385C>A rs763288984 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.1106T>C (p.Ile369Thr) rs747214463 0.00001
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr) rs367664486 0.00001
NM_000235.4(LIPA):c.229+6G>A rs778866130 0.00001
NM_000235.4(LIPA):c.558G>T (p.Gln186His) rs1357894906 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.761A>T (p.Lys254Met) rs779125462 0.00001
NC_000010.10:g.(?_90974585)_(91222335_?)dup
NM_000235.3(LIPA):c.-48G>A rs886047473
NM_000235.3(LIPA):c.-85C>A rs886047474
NM_000235.4(LIPA):c.*1091T>C rs886047465
NM_000235.4(LIPA):c.*1205T>G rs886047464
NM_000235.4(LIPA):c.*618G>C rs886047469
NM_000235.4(LIPA):c.*841C>T rs116074523
NM_000235.4(LIPA):c.1004T>C (p.Val335Ala)
NM_000235.4(LIPA):c.1007C>T (p.Pro336Leu)
NM_000235.4(LIPA):c.1020G>T (p.Trp340Cys) rs1842605430
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.1039C>A (p.Leu347Ile) rs1455189146
NM_000235.4(LIPA):c.1043C>T (p.Ala348Val) rs757819577
NM_000235.4(LIPA):c.1105A>G (p.Ile369Val)
NM_000235.4(LIPA):c.1107T>G (p.Ile369Met)
NM_000235.4(LIPA):c.1108C>G (p.Pro370Ala)
NM_000235.4(LIPA):c.1109C>T (p.Pro370Leu)
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr) rs778013279
NM_000235.4(LIPA):c.1145A>T (p.Asp382Val)
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser) rs529668674
NM_000235.4(LIPA):c.1172T>G (p.Ile391Ser)
NM_000235.4(LIPA):c.1174A>T (p.Ile392Phe) rs1842600415
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.130T>G (p.Trp44Gly)
NM_000235.4(LIPA):c.134G>C (p.Gly45Ala)
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.158T>A (p.Val53Asp)
NM_000235.4(LIPA):c.176A>G (p.Tyr59Cys)
NM_000235.4(LIPA):c.185G>T (p.Cys62Phe)
NM_000235.4(LIPA):c.204T>G (p.His68Gln)
NM_000235.4(LIPA):c.230-15A>G rs199978109
NM_000235.4(LIPA):c.245T>C (p.Val82Ala) rs1298273048
NM_000235.4(LIPA):c.257A>G (p.His86Arg) rs1842798350
NM_000235.4(LIPA):c.264G>T (p.Leu88Phe)
NM_000235.4(LIPA):c.266T>C (p.Leu89Pro) rs2133436727
NM_000235.4(LIPA):c.282C>A (p.Asn94Lys)
NM_000235.4(LIPA):c.302A>G (p.Asn101Ser)
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly) rs912441212
NM_000235.4(LIPA):c.365G>T (p.Gly122Val)
NM_000235.4(LIPA):c.392C>A (p.Thr131Lys)
NM_000235.4(LIPA):c.404C>T (p.Ser135Phe)
NM_000235.4(LIPA):c.416T>G (p.Phe139Cys) rs2133436092
NM_000235.4(LIPA):c.473T>G (p.Phe158Cys)
NM_000235.4(LIPA):c.481A>T (p.Asn161Tyr)
NM_000235.4(LIPA):c.50T>C (p.Leu17Pro) rs886047472
NM_000235.4(LIPA):c.511G>T (p.Val171Leu)
NM_000235.4(LIPA):c.538+4T>A rs779872404
NM_000235.4(LIPA):c.547G>T (p.Ala183Ser)
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.611C>T (p.Ala204Val)
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.619G>A (p.Ala207Thr)
NM_000235.4(LIPA):c.624C>G (p.Phe208Leu)
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.658C>T (p.Pro220Ser)
NM_000235.4(LIPA):c.666T>A (p.His222Gln)
NM_000235.4(LIPA):c.667C>T (p.Leu223Phe) rs1161698310
NM_000235.4(LIPA):c.676-14T>A rs886047471
NM_000235.4(LIPA):c.697T>C (p.Phe233Leu)
NM_000235.4(LIPA):c.712G>A (p.Ala238Thr) rs1842732425
NM_000235.4(LIPA):c.739G>A (p.Val247Ile)
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.781T>C (p.Cys261Arg) rs1842730482
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.877A>C (p.Met293Leu) rs764343762
NM_000235.4(LIPA):c.894+6C>T
NM_000235.4(LIPA):c.895-3T>A
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.922T>G (p.Phe308Val) rs751625944
NM_000235.4(LIPA):c.940G>A (p.Ala314Thr)
NM_000235.4(LIPA):c.944A>G (p.Lys315Arg)
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.980C>T (p.Thr327Ile)
NM_000235.4(LIPA):c.999G>A (p.Met333Ile)

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