ClinVar Miner

List of variants reported as likely pathogenic for argininosuccinic aciduria by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.1062+5G>C
NM_000048.4(ASL):c.1135C>G (p.Arg379Gly)
NM_000048.4(ASL):c.1143+1del
NM_000048.4(ASL):c.502C>T (p.Arg168Cys)	rs766832061

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