ClinVar Miner

List of variants studied for Cystinuria by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=) rs3738985 0.75388
NM_014270.5(SLC7A9):c.874-39A>G rs2287879 0.70645
NM_000341.4(SLC3A1):c.1332+7C>T rs3738984 0.61143
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) rs698761

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