List of variants reported as pathogenic for Cystinuria by Illumina Laboratory Services, Illumina

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Total variants: 8

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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_014270.5(SLC7A9):c.368C>T (p.Thr123Met)	rs79987078	0.00023
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)	rs200483989	0.00019
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	rs121908480	0.00017
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)	rs201502095	0.00007
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)	rs140873167	0.00006
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)	rs745319034

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