ClinVar Miner

List of variants in gene ASAH1, LOC129999940 studied for spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Included ClinVar conditions (2):

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
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
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)	rs966267709

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