ClinVar Miner

List of variants in gene ASAH1 reported as benign by PreventionGenetics, part of Exact Sciences

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Total variants: 11
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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.457+45A>G rs2073574 0.64032
NM_177924.5(ASAH1):c.214G>A (p.Val72Met) rs1071645 0.42367
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) rs1049874 0.42365
NM_177924.5(ASAH1):c.126-21A>G rs12547845 0.42360
NM_177924.5(ASAH1):c.303+7G>A rs4921834 0.42285
NM_177924.5(ASAH1):c.304-42G>A rs12675283 0.34950
NM_177924.5(ASAH1):c.704-19T>C rs17515291 0.21755
NM_177924.5(ASAH1):c.79-3C>T rs35513736 0.10703
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067 0.00379
NM_177924.5(ASAH1):c.79-50G>A rs34482943

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