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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_177924.5(ASAH1):c.*103G>A	rs181616268	0.00086
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr)	rs199785411	0.00030
NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys)	rs148976489	0.00024
NM_177924.5(ASAH1):c.308G>C (p.Gly103Ala)	rs144169068	0.00022
NM_177924.5(ASAH1):c.718A>C (p.Ile240Leu)	rs374187681	0.00019
NM_177924.5(ASAH1):c.-219A>T	rs539981182	0.00011
NM_177924.5(ASAH1):c.784A>T (p.Ser262Cys)	rs781103974	0.00002
NM_177924.5(ASAH1):c.1169A>G (p.Asp390Gly)	rs373012279	0.00001
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr)	rs200758704

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