ClinVar Miner

List of variants reported as pathogenic for Argininosuccinate lyase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 3

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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.857A>G (p.Gln286Arg)	rs28941472	0.00015
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)	rs761651320	0.00002

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