List of variants reported as likely pathogenic for Cystinuria by Revvity Omics, Revvity

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	rs79389353	0.00239
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)	rs778000327	0.00025
NM_000341.4(SLC3A1):c.1012-9_1012del	rs2104364101
NM_000341.4(SLC3A1):c.891+4A>G	rs2465902056
NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)	rs766981518
NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs)	rs779653925
NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter)	rs988712826

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