ClinVar Miner

List of variants studied for Argininosuccinate lyase deficiency by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00002
NM_000048.4(ASL):c.1207del (p.Val403fs) rs1554328363
NM_000048.4(ASL):c.706C>T (p.Arg236Trp) rs761268464

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