ClinVar Miner

List of variants in gene ASAH1 reported as likely pathogenic for Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis

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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: 2

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HGVS	dbSNP	gnomAD frequency
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)	rs769683272	0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)	rs371666412	0.00001

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