ClinVar Miner

List of variants reported as uncertain significance for spinal muscular atrophy-progressive myoclonic epilepsy syndrome by Baylor Genetics

Included ClinVar conditions (2):

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Minimum conflict level: Report conflict between different conditions
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_177924.5(ASAH1):c.124A>G (p.Thr42Ala)	rs779888892	0.00002
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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