ClinVar Miner

List of variants reported as likely pathogenic for argininosuccinic aciduria by Department of Human Genetics, Hannover Medical School

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)	rs759396688	0.00006
NM_000048.4(ASL):c.846C>G (p.Ser282Arg)	rs398123128	0.00001

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