ClinVar Miner

List of variants reported for Cystinuria by Genomics England Pilot Project, Genomics England

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006

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