ClinVar Miner

List of variants studied for Cystinuria by Intergen, Intergen Genetics and Rare Diseases Diagnosis Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00006

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