ClinVar Miner

List of variants studied for Argininosuccinate lyase deficiency by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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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.578G>A (p.Arg193Gln) rs373697663 0.00004

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