List of variants reported as pathogenic for Spinal muscular atrophy-progressive myoclonic epilepsy syndrome by Medical Affairs, Dicerna Pharmaceuticals

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)	rs200455852	0.00004
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)	rs371666412	0.00001
NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)	rs771847002	0.00001
NM_177924.5(ASAH1):c.125+1G>A	rs1588999312
NM_177924.5(ASAH1):c.223_224insC (p.Val75fs)	rs1588990194
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)	rs766257867
NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg)	rs886039750

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