ClinVar Miner

List of variants in gene combination ABHD14A-ACY1, ACY1 reported as uncertain significance for Aminoacylase 1 deficiency

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Total variants: 11
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NM_000666.3(ACY1):c.1000A>T (p.Met334Leu)
NM_000666.3(ACY1):c.1001T>C (p.Met334Thr) rs750876815
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000666.3(ACY1):c.1100G>A (p.Arg367His) rs201647575
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp) rs148346337
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys) rs2229152
NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys) rs6804746
NM_000666.3(ACY1):c.1201G>T (p.Val401Leu)
NM_000666.3(ACY1):c.19G>C (p.Glu7Gln)

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