ClinVar Miner

List of variants in gene ALOXE3 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_021628.3(ALOXE3):c.1685-117A>G rs2289587 0.43486
NM_021628.3(ALOXE3):c.*356A>C rs3809882 0.43006
NM_021628.3(ALOXE3):c.1685-150G>A rs2289588 0.42468
NM_021628.3(ALOXE3):c.2124C>T (p.Ser708=) rs3809881 0.39411
NM_021628.3(ALOXE3):c.785-14C>T rs113539426 0.02299
NM_021628.3(ALOXE3):c.*111T>C rs75605551 0.02113
NM_021628.3(ALOXE3):c.1543A>G (p.Ile515Val) rs3027205 0.01586
NM_021628.3(ALOXE3):c.680+9A>G rs3027214 0.01052
NM_021628.3(ALOXE3):c.555-14C>G rs116310580 0.01050
NM_021628.3(ALOXE3):c.2032C>T (p.Arg678Cys) rs143246503 0.01031
NM_021628.3(ALOXE3):c.2019C>T (p.Ala673=) rs148295244 0.00781
NM_021628.3(ALOXE3):c.148-11G>C rs114372253 0.00716
NM_021628.3(ALOXE3):c.*87C>T rs75448808 0.00699
NM_021628.3(ALOXE3):c.*24A>G rs111342695 0.00658
NM_021628.3(ALOXE3):c.*514T>G rs80223722 0.00367
NM_021628.3(ALOXE3):c.1786-10G>A rs148606343 0.00289
NM_021628.3(ALOXE3):c.*538G>A rs141745580 0.00267
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met) rs121434235 0.00230
NM_021628.3(ALOXE3):c.*392G>A rs188419202 0.00210
NM_021628.3(ALOXE3):c.*618T>C rs549813198 0.00208
NM_021628.3(ALOXE3):c.2008C>T (p.Arg670Trp) rs141882639 0.00143
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_021628.3(ALOXE3):c.1626G>A (p.Glu542=) rs139454209 0.00102
NM_021628.3(ALOXE3):c.474C>T (p.Asp158=) rs113030871 0.00089
NM_021628.3(ALOXE3):c.1503G>C (p.Leu501=) rs145838099 0.00060
NM_021628.3(ALOXE3):c.1305+12C>G rs754304050 0.00056
NM_021628.3(ALOXE3):c.1871C>T (p.Thr624Ile) rs146280032 0.00048
NM_021628.3(ALOXE3):c.1706C>A (p.Thr569Asn) rs142136672 0.00031
NM_021628.3(ALOXE3):c.1764C>T (p.His588=) rs144069104 0.00029
NM_021628.3(ALOXE3):c.650C>T (p.Thr217Met) rs200646727 0.00024
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_021628.3(ALOXE3):c.1432A>C (p.Ser478Arg) rs368012174 0.00011
NM_021628.3(ALOXE3):c.414G>A (p.Arg138=) rs201269701 0.00010
NM_021628.3(ALOXE3):c.412C>T (p.Arg138Trp) rs765090449 0.00009
NM_021628.3(ALOXE3):c.*344C>T rs556261209 0.00008
NM_021628.3(ALOXE3):c.*466G>A rs533827834 0.00008
NM_021628.3(ALOXE3):c.*262C>T rs180740798 0.00007
NM_021628.3(ALOXE3):c.1486C>T (p.Arg496Trp) rs867780319 0.00007
NM_021628.3(ALOXE3):c.1555A>G (p.Ile519Val) rs772608978 0.00006
NM_021628.3(ALOXE3):c.1365G>A (p.Leu455=) rs757010758 0.00005
NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly) rs373520842 0.00004
NM_021628.3(ALOXE3):c.680+1G>A rs764781178 0.00004
NM_021628.3(ALOXE3):c.1542G>A (p.Lys514=) rs370462522 0.00003
NM_021628.3(ALOXE3):c.1696C>T (p.Arg566Trp) rs775786728 0.00003
NM_021628.3(ALOXE3):c.*669T>G rs886053580 0.00001
NM_021628.3(ALOXE3):c.148-3C>G rs1276024055 0.00001
NM_021628.3(ALOXE3):c.1598G>A (p.Ser533Asn) rs147748799 0.00001
NM_021628.3(ALOXE3):c.1684+5C>T rs763167274 0.00001
NM_021628.3(ALOXE3):c.1710A>G (p.Pro570=) rs199731680 0.00001
NM_021628.3(ALOXE3):c.1786-2A>G rs139375856 0.00001
NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp) rs1311967606 0.00001
NM_021628.3(ALOXE3):c.222C>T (p.Tyr74=) rs572527913 0.00001
NM_021628.3(ALOXE3):c.271G>T (p.Glu91Ter) rs367827093 0.00001
NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter) rs370031870 0.00001
NM_021628.3(ALOXE3):c.434G>A (p.Arg145His) rs745480657 0.00001
NM_021628.3(ALOXE3):c.715C>T (p.Arg239Cys) rs1046226453 0.00001
NM_021628.3(ALOXE3):c.853G>A (p.Val285Ile) rs774243681 0.00001
NM_021628.3(ALOXE3):c.923T>C (p.Leu308Pro) rs764052154 0.00001
NM_021628.3(ALOXE3):c.951G>A (p.Glu317=) rs1980066150 0.00001
NM_021628.3(ALOXE3):c.952dup (p.Leu318fs) rs1472087421 0.00001
NM_021628.2:c.435-?_554+?del
NM_021628.3(ALOXE3):c.*161C>T rs745793871
NM_021628.3(ALOXE3):c.*222C>G rs886053583
NM_021628.3(ALOXE3):c.*314T>A rs886053582
NM_021628.3(ALOXE3):c.*391C>A rs80115129
NM_021628.3(ALOXE3):c.*481G>A rs1978528529
NM_021628.3(ALOXE3):c.*523A>G rs1978525756
NM_021628.3(ALOXE3):c.*641C>T rs886053581
NM_021628.3(ALOXE3):c.*654C>T rs971249277
NM_021628.3(ALOXE3):c.*693G>T rs886053579
NM_021628.3(ALOXE3):c.1246T>C (p.Cys416Arg) rs1979917479
NM_021628.3(ALOXE3):c.1280T>C (p.Leu427Pro) rs1355284797
NM_021628.3(ALOXE3):c.1292dup (p.His431fs) rs1567999431
NM_021628.3(ALOXE3):c.1305+15del rs58194728
NM_021628.3(ALOXE3):c.1305+1_1305+2delinsTA rs1979909742
NM_021628.3(ALOXE3):c.1393-1G>A rs1979807431
NM_021628.3(ALOXE3):c.1432del (p.Ser478fs) rs2151838171
NM_021628.3(ALOXE3):c.1498G>T (p.Val500Phe) rs121434232
NM_021628.3(ALOXE3):c.1499T>G (p.Val500Gly) rs1329512333
NM_021628.3(ALOXE3):c.1525C>T (p.Arg509Ter) rs754701941
NM_021628.3(ALOXE3):c.1562+4_1562+5insCACCTCT rs2151837897
NM_021628.3(ALOXE3):c.1635C>T (p.Ala545=) rs963782279
NM_021628.3(ALOXE3):c.1685-2A>G
NM_021628.3(ALOXE3):c.1786-63_1807del rs1979055447
NM_021628.3(ALOXE3):c.1803_1804dup (p.Met602fs) rs1979055873
NM_021628.3(ALOXE3):c.1812T>A (p.Asn604Lys) rs568695601
NM_021628.3(ALOXE3):c.1937_1944del (p.Ser646fs) rs1979042162
NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter) rs1163280866
NM_021628.3(ALOXE3):c.306T>A (p.Tyr102Ter) rs1568005543
NM_021628.3(ALOXE3):c.308A>C (p.Gln103Pro) rs1980629564
NM_021628.3(ALOXE3):c.325T>C (p.Cys109Arg) rs1980627705
NM_021628.3(ALOXE3):c.327C>A (p.Cys109Ter) rs1980627156
NM_021628.3(ALOXE3):c.352+1G>T
NM_021628.3(ALOXE3):c.353-1G>C rs1980522554
NM_021628.3(ALOXE3):c.584C>T (p.Pro195Leu) rs139573113
NM_021628.3(ALOXE3):c.631C>T (p.Arg211Ter) rs141340759
NM_021628.3(ALOXE3):c.680+1G>T rs764781178
NM_021628.3(ALOXE3):c.758del (p.Phe253fs) rs1980145171
NM_021628.3(ALOXE3):c.780G>A (p.Thr260=) rs148293767
NM_021628.3(ALOXE3):c.799C>T (p.His267Tyr) rs747460667
NM_021628.3(ALOXE3):c.833A>G (p.Tyr278Cys) rs1980084767
NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter) rs765682032
NM_021628.3(ALOXE3):c.842G>T (p.Gly281Val) rs786205120
NM_021628.3(ALOXE3):c.957G>A (p.Glu319=) rs1427770703

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