List of variants in gene ASAH1 reported as uncertain significance for Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)	rs200455852	0.00004
NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala)	rs779888892	0.00002
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)	rs371666412	0.00001
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)	rs766257867	0.00001
NM_177924.5(ASAH1):c.556A>G (p.Thr186Ala)	rs368212646

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