List of variants reported as pathogenic for aminoacylase 1 deficiency

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000666.3(ACY1):c.1178G>A (p.Arg393His)	rs121912701	0.00345
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)	rs121912698	0.00260
NM_000666.3(ACY1):c.575dup (p.Ser192fs)	rs770702363	0.00014
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp)	rs121912699	0.00002
NM_000666.3(ACY1):c.1001_1001+5del	rs672601350	0.00001
NM_000666.3(ACY1):c.360-1G>A	rs672601330	0.00001
NM_000666.3(ACY1):c.589C>T (p.Arg197Trp)	rs121912700	0.00001
NM_000666.3(ACY1):c.1104_1105dup (p.Pro369fs)	rs387906579

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