List of variants in gene combination ALOXE3, LOC130060198 reported as pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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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