ClinVar Miner

List of variants in gene LIPA reported as uncertain significance for Lysosomal acid lipase deficiency

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Total variants: 75
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HGVS dbSNP gnomAD frequency
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.112-9T>C rs200186130 0.00046
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000235.4(LIPA):c.676-25T>C rs150415734 0.00031
NM_000235.4(LIPA):c.1046A>G (p.Asp349Gly) rs149459699 0.00027
NM_000235.4(LIPA):c.966+3A>T rs201242614 0.00015
NM_000235.4(LIPA):c.*842G>A rs187138384 0.00014
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.*557A>C rs942666524 0.00009
NM_000235.4(LIPA):c.380G>A (p.Arg127Gln) rs544080483 0.00009
NM_000235.4(LIPA):c.*939G>A rs774820637 0.00008
NM_000235.4(LIPA):c.-2+7G>A rs879494219 0.00007
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.*921C>T rs1179037686 0.00006
NM_000235.4(LIPA):c.1119G>A (p.Glu373=) rs745997462 0.00006
NM_000235.4(LIPA):c.618C>A (p.Val206=) rs763651849 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.*458C>T rs1006504114 0.00004
NM_000235.4(LIPA):c.*991T>G rs886047466 0.00004
NM_000235.4(LIPA):c.967-13C>A rs762226885 0.00004
NM_000235.4(LIPA):c.*184T>C rs1338962406 0.00003
NM_000235.4(LIPA):c.111+13A>G rs375237841 0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107 0.00003
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806 0.00002
NM_000235.4(LIPA):c.538+6T>C rs772236690 0.00002
NM_000235.4(LIPA):c.*1147C>G rs1245823235 0.00001
NM_000235.4(LIPA):c.*385C>A rs763288984 0.00001
NM_000235.4(LIPA):c.*494A>G rs1003454769 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.1070T>C (p.Leu357Pro) rs772684869 0.00001
NM_000235.4(LIPA):c.1171A>G (p.Ile391Val) rs1449941002 0.00001
NM_000235.4(LIPA):c.229+6G>A rs778866130 0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=) rs1438679981 0.00001
NM_000235.4(LIPA):c.428+3A>G rs369626938 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.*1091T>C rs886047465
NM_000235.4(LIPA):c.*1205T>G rs886047464
NM_000235.4(LIPA):c.*383A>G rs1842593097
NM_000235.4(LIPA):c.*618G>C rs886047469
NM_000235.4(LIPA):c.1032C>T (p.His344=) rs779601441
NM_000235.4(LIPA):c.1052ACG[1] (p.Asp352del) rs767207643
NM_000235.4(LIPA):c.1066T>C (p.Leu356=) rs1281069681
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr) rs778013279
NM_000235.4(LIPA):c.1135T>A (p.Trp379Arg)
NM_000235.4(LIPA):c.1142T>C (p.Leu381Pro) rs1334456405
NM_000235.4(LIPA):c.1167T>C (p.Asn389=) rs1842600689
NM_000235.4(LIPA):c.1185G>A (p.Met395Ile) rs1842600141
NM_000235.4(LIPA):c.140C>A (p.Pro47His) rs775608408
NM_000235.4(LIPA):c.1A>G (p.Met1Val) rs767039444
NM_000235.4(LIPA):c.230-15A>G rs199978109
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.391A>G (p.Thr131Ala) rs1842795359
NM_000235.4(LIPA):c.425T>C (p.Phe142Ser)
NM_000235.4(LIPA):c.50T>C (p.Leu17Pro) rs886047472
NM_000235.4(LIPA):c.521C>T (p.Ser174Phe) rs1842777072
NM_000235.4(LIPA):c.538+4T>A rs779872404
NM_000235.4(LIPA):c.539-5C>A rs2297472
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.667C>T (p.Leu223Phe) rs1161698310
NM_000235.4(LIPA):c.676-14T>A rs886047471
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser) rs2228159
NM_000235.4(LIPA):c.851C>T (p.Ser284Phe) rs1261613499
NM_000235.4(LIPA):c.877A>C (p.Met293Leu) rs764343762
NM_000235.4(LIPA):c.925G>T (p.Asp309Tyr) rs2133413594
NM_000235.4(LIPA):c.947A>G (p.Asn316Ser)

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