ClinVar Miner

List of variants in gene ALOXE3 reported as likely pathogenic for Autosomal recessive congenital ichthyosis 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021628.3(ALOXE3):c.1525C>T (p.Arg509Ter)	rs754701941
NM_021628.3(ALOXE3):c.1685-2A>G
NM_021628.3(ALOXE3):c.352+1G>T

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