ClinVar Miner

List of variants in gene LIPA reported as likely pathogenic for Lysosomal acid lipase deficiency

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Gene type:
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Total variants: 74
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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.1024G>A (p.Gly342Arg) rs776472526 0.00004
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.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.1120C>T (p.His374Tyr) rs367664486 0.00001
NM_000235.4(LIPA):c.1163A>G (p.Tyr388Cys) rs766062562 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.350_351insCC (p.Met117fs) rs753796180 0.00001
NM_000235.4(LIPA):c.386A>G (p.His129Arg) rs1423914418 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.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
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.1033G>A (p.Asp345Asn) rs1446626293
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del) rs767207643
NM_000235.4(LIPA):c.111+2T>G rs1554869292
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser) rs529668674
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)
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.226A>T (p.Lys76Ter)
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.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.417C>A (p.Phe139Leu) rs1589558062
NM_000235.4(LIPA):c.420_421del (p.Trp140fs)
NM_000235.4(LIPA):c.428+1G>A rs1554866004
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.524A>C (p.Gln175Pro)
NM_000235.4(LIPA):c.526G>A (p.Gly176Ser) rs1589556901
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.676-2A>G rs747508159
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.866C>G (p.Ser289Cys) rs1589553174
NM_000235.4(LIPA):c.871C>T (p.Gln291Ter)
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.931G>A (p.Gly311Arg) rs1589548972
NM_000235.4(LIPA):c.960C>A (p.Tyr320Ter) rs1554864404

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