ClinVar Miner

List of variants reported as likely pathogenic for Cystinuria

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Total variants: 9
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HGVS dbSNP
NC_000002.11:g.(?_44507835)_(44573549_?)del
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) rs797044609
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000341.4(SLC3A1):c.430+2T>G rs1558450604
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_014270.5(SLC7A9):c.749+1G>C rs1060499787
NM_014270.5(SLC7A9):c.88-2A>G rs1085307095
Single allele

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