ClinVar Miner

List of variants studied for Cystinuria by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.1370dup (p.Leu457fs) rs2104383898
NM_000341.4(SLC3A1):c.342_346dup (p.Asp116delinsAlaTer) rs755432720
NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter) rs768222969

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