ClinVar Miner

List of variants reported as pathogenic for Wolman disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer) rs756016704 0.00008
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.796G>T (p.Gly266Ter) rs267607218 0.00004
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.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.455T>C (p.Leu152Pro) rs748267444 0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) rs121965086 0.00001
NM_000235.4(LIPA):c.652C>T (p.Arg218Ter) rs771330022 0.00001
NC_000010.10:g.(90986762_90987956)_(90988156_91005432)del
NC_000010.10:g.(?_90974565)_(91007425_?)del
NC_000010.10:g.(?_90974585)_(90974838_?)del
NC_000010.10:g.(?_90974585)_(90975786_?)del
NC_000010.10:g.(?_90974585)_(90988175_?)del
NC_000010.10:g.(?_90974585)_(91007408_?)del
NC_000010.10:g.(?_90982258)_(90988165_?)del
NC_000010.10:g.(?_91005423)_(91007415_?)del
NC_000010.11:g.(?_89228190)_(89228408_?)del
NM_000235.4(LIPA):c.1024G>C (p.Gly342Arg) rs776472526
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.1067T>G (p.Leu356Ter) rs2133411704
NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter) rs121965087
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)
NM_000235.4(LIPA):c.132G>A (p.Trp44Ter)
NM_000235.4(LIPA):c.245del (p.Val82fs)
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.293_295del (p.Asn98_Leu99delinsIle)
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) rs766364179
NM_000235.4(LIPA):c.37del (p.Val13fs) rs2133468040
NM_000235.4(LIPA):c.382A>T (p.Lys128Ter)
NM_000235.4(LIPA):c.386A>C (p.His129Pro) rs1423914418
NM_000235.4(LIPA):c.406C>T (p.Gln136Ter) rs1842794747
NM_000235.4(LIPA):c.482del (p.Asn161fs) rs762559980
NM_000235.4(LIPA):c.511del (p.Val171fs)
NM_000235.4(LIPA):c.539-2A>G rs762143630
NM_000235.4(LIPA):c.594dup (p.Ala199fs) rs780495201
NM_000235.4(LIPA):c.600G>A (p.Leu200=) rs1172318248
NM_000235.4(LIPA):c.600_603dup (p.Pro202fs) rs2133429569
NM_000235.4(LIPA):c.616dup (p.Val206fs)
NM_000235.4(LIPA):c.618_627del (p.Ala207fs)
NM_000235.4(LIPA):c.618dup (p.Ala207fs)
NM_000235.4(LIPA):c.656T>G (p.Leu219Ter) rs1554865576
NM_000235.4(LIPA):c.656_657insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTAAGGAGACAGTGCCTCTGGCAGGTATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATTAGGACGATT (p.Leu219_Pro220insAlaGlyArgGlyGlySerArgLeuTer)
NM_000235.4(LIPA):c.676-2A>T rs747508159
NM_000235.4(LIPA):c.684del (p.Phe228fs) rs770074196
NM_000235.4(LIPA):c.694G>T (p.Glu232Ter)
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.78dup (p.Thr27fs)
NM_000235.4(LIPA):c.804del (p.Asn268fs) rs1410809018
NM_000235.4(LIPA):c.854del (p.Pro285fs) rs2133424815
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+1G>A rs1564751995
NM_000235.4(LIPA):c.894G>C (p.Gln298His) rs116928232
NM_000235.4(LIPA):c.898_901del (p.Val300fs)
NM_000235.4(LIPA):c.929G>A (p.Trp310Ter) rs2133413584
NM_000235.4(LIPA):c.951T>A (p.Tyr317Ter) rs760413481
NM_000235.4(LIPA):c.964C>T (p.Gln322Ter)
NM_000235.4(LIPA):c.980del (p.Thr327fs) rs2133412083
NM_000235.4(LIPA):c.984C>A (p.Tyr328Ter)

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