ClinVar Miner

List of variants reported as pathogenic for argininosuccinic aciduria by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (1):

Argininosuccinate lyase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00120
NM_000048.4(ASL):c.446+1G>A	rs142637046	0.00008

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