ClinVar Miner

List of variants studied for aminoacylase 1 deficiency

Included ClinVar conditions (1):
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Total variants: 18
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HGVS dbSNP
NM_000666.3(ACY1):c.1000A>T (p.Met334Leu)
NM_000666.3(ACY1):c.1001T>C (p.Met334Thr) rs750876815
NM_000666.3(ACY1):c.1001_1001+5del rs672601350
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.1104_1105dup (p.Pro369fs) rs387906579
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.1178G>A (p.Arg393His) rs121912701
NM_000666.3(ACY1):c.1201G>T (p.Val401Leu)
NM_000666.3(ACY1):c.19G>C (p.Glu7Gln)
NM_000666.3(ACY1):c.360-1G>A rs672601330
NM_000666.3(ACY1):c.437-19G>A
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
NM_000666.3(ACY1):c.921+21A>T

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