ClinVar Miner

List of variants studied for Argininosuccinate lyase deficiency by Neuberg Centre For Genomic Medicine, NCGM

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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.978G>C (p.Gln326His) rs764356037 0.00001

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