List of variants in gene ASAH1 reported as likely pathogenic 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)	rs145873635	0.00004
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys)	rs543697946	0.00003
NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)	rs1588973202
NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)	rs769587137
NM_177924.5(ASAH1):c.118G>C (p.Gly40Arg)	rs1800367831
NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter)	rs766395283
NM_177924.5(ASAH1):c.848_849delinsC (p.Leu283fs)

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