ClinVar Miner

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.1041+19C>A	rs17126194	0.00037
NM_177924.5(ASAH1):c.667C>T (p.Leu223=)	rs371332103

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