ClinVar Miner

List of variants in gene ALOXE3 reported as pathogenic by Institute for Human Genetics, University Medical Center Freiburg

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
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.1786-2A>G rs139375856 0.00001
NM_021628.3(ALOXE3):c.271G>T (p.Glu91Ter) rs367827093 0.00001
NM_021628.3(ALOXE3):c.923T>C (p.Leu308Pro) rs764052154 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.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+1_1305+2delinsTA rs1979909742
NM_021628.3(ALOXE3):c.1393-1G>A rs1979807431
NM_021628.3(ALOXE3):c.1498G>T (p.Val500Phe) rs121434232
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.308A>C (p.Gln103Pro) rs1980629564
NM_021628.3(ALOXE3):c.327C>A (p.Cys109Ter) rs1980627156
NM_021628.3(ALOXE3):c.353-1G>C rs1980522554
NM_021628.3(ALOXE3):c.631C>T (p.Arg211Ter) rs141340759
NM_021628.3(ALOXE3):c.758del (p.Phe253fs) rs1980145171
NM_021628.3(ALOXE3):c.833A>G (p.Tyr278Cys) rs1980084767
NM_021628.3(ALOXE3):c.957G>A (p.Glu319=) rs1427770703

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