ClinVar Miner

List of variants in gene ALOXE3 reported as uncertain significance for congenital non-bullous ichthyosiform erythroderma

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_021628.3(ALOXE3):c.*514T>G rs80223722 0.00367
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.*618T>C rs549813198 0.00208
NM_021628.3(ALOXE3):c.2008C>T (p.Arg670Trp) rs141882639 0.00143
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.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.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.222C>T (p.Tyr74=) rs572527913 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.951G>A (p.Glu317=) rs1980066150 0.00001
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.*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.1499T>G (p.Val500Gly) rs1329512333
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.325T>C (p.Cys109Arg) rs1980627705
NM_021628.3(ALOXE3):c.584C>T (p.Pro195Leu) rs139573113
NM_021628.3(ALOXE3):c.680+1G>T rs764781178
NM_021628.3(ALOXE3):c.780G>A (p.Thr260=) rs148293767
NM_021628.3(ALOXE3):c.799C>T (p.His267Tyr) rs747460667

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