ClinVar Miner

List of variants in gene ASAH1 reported as uncertain significance by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016 0.00049
NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala) rs779888892 0.00002
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile) rs766257867 0.00001
NM_177924.5(ASAH1):c.556A>G (p.Thr186Ala) rs368212646
NM_177924.5(ASAH1):c.587A>G (p.Lys196Arg) rs1206454808
NM_177924.5(ASAH1):c.847C>G (p.Leu283Val) rs750455734

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