ClinVar Miner

List of variants studied for aminoacylase 1 deficiency by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys) rs6804746 0.00159
NM_000666.3(ACY1):c.437-19G>A rs757575874 0.00008
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp) rs148346337 0.00002
NM_000666.3(ACY1):c.1201G>T (p.Val401Leu) rs1701179354
NM_000666.3(ACY1):c.19G>C (p.Glu7Gln) rs953420417
NM_000666.3(ACY1):c.921+21A>T rs1701122828

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