ClinVar Miner

List of variants in gene combination ALOXE3, LOC130060198 reported as pathogenic by Institute for Human Genetics, University Medical Center Freiburg

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_021628.3(ALOXE3):c.1031A>C (p.Gln344Pro) rs142781546 0.00004
NM_021628.3(ALOXE3):c.1031_1039del (p.Gln344_Ala347delinsPro) rs1979966591
NM_021628.3(ALOXE3):c.1061G>A (p.Trp354Ter) rs767046669
NM_021628.3(ALOXE3):c.1164G>T (p.Trp388Cys) rs1979931284
NM_021628.3(ALOXE3):c.1186C>A (p.Arg396Ser) rs121434234
NM_021628.3(ALOXE3):c.1193C>T (p.Ser398Phe) rs1979924544
NM_021628.3(ALOXE3):c.1202T>A (p.Leu401Gln) rs761241768
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg) rs1296095311

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