ClinVar Miner

List of variants in gene ASAH1 reported as benign by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) rs10103355 0.87652
NM_177924.5(ASAH1):c.214G>A (p.Val72Met) rs1071645 0.42845
NM_177924.5(ASAH1):c.303+7G>A rs4921834 0.42771
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+21C>A rs2106037 0.34725
NM_177924.5(ASAH1):c.704-19T>C rs17515291 0.21755
NM_177924.5(ASAH1):c.79-3C>T rs35513736 0.10649
NM_004315.6(ASAH1):c.107G>A (p.Ser36Asn) rs13263632 0.07419
NM_177924.5(ASAH1):c.372T>A (p.Asp124Glu) rs2472205 0.03319
NM_004315.6(ASAH1):c.-22T>C rs140826556 0.03233
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067 0.00379

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