ClinVar Miner

List of variants reported as likely benign for spinal muscular atrophy-progressive myoclonic epilepsy syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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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