ClinVar Miner

List of variants reported as pathogenic for Aminoacylase 1 deficiency

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Total variants: 8
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NM_000666.3(ACY1):c.1001_1001+5del rs672601350
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000666.3(ACY1):c.1104_1105dup (p.Pro369fs) rs387906579
NM_000666.3(ACY1):c.1178G>A (p.Arg393His) rs121912701
NM_000666.3(ACY1):c.360-1G>A rs672601330
NM_000666.3(ACY1):c.575dup (p.Ser192fs) rs770702363
NM_000666.3(ACY1):c.589C>T (p.Arg197Trp) rs121912700
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp) rs121912699

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