ClinVar Miner

List of variants studied for Cystinuria by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_014270.5(SLC7A9):c.1399+4_1399+7del rs747593886
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034

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