ClinVar Miner

List of variants reported as likely pathogenic for Cystinuria

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Total variants: 18
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HGVS dbSNP
NC_000002.11:g.(?_44508506)_(44541110_?)del
NC_000002.12:g.(?_44280696)_(44346410_?)del
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys)
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) rs797044609
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His) rs776729515
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000341.4(SLC3A1):c.430+2T>G rs1558450604
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078
NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp) rs12150890
NM_014270.5(SLC7A9):c.450_452del (p.Val151del)
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
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484
NM_016343.4(CENPF):c.997_1012del (p.Glu333fs)
Single allele

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