ClinVar Miner

List of variants studied for Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis by Fulgent Genetics, Fulgent Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) rs10103355 0.87079
NM_177924.5(ASAH1):c.*103G>A rs181616268 0.00086
NM_177924.5(ASAH1):c.1041+19C>A rs17126194 0.00037
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.186G>A (p.Trp62Ter) rs769683272 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile) rs966267709
NM_177924.5(ASAH1):c.667C>T (p.Leu223=) rs371332103
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr) rs200758704

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