ClinVar Miner

List of variants reported as benign for Cystinuria

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=) rs3738985 0.75388
NM_014270.5(SLC7A9):c.874-39A>G rs2287879 0.70645
NM_014270.5(SLC7A9):c.-172T>A rs2287876 0.63605
NM_001171613.2(PREPL):c.*586A>G rs8886 0.63581
NM_000341.4(SLC3A1):c.1332+7C>T rs3738984 0.61143
NM_014270.5(SLC7A9):c.425T>C (p.Val142Ala) rs12150889 0.34607
NM_014270.5(SLC7A9):c.507C>T (p.Ser169=) rs11084673 0.32264
NM_014270.5(SLC7A9):c.687C>T (p.Leu229=) rs1007161 0.31957
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met) rs1007160 0.31956
NM_014270.5(SLC7A9):c.1143C>T (p.Ala381=) rs2287881 0.22930
NM_014270.5(SLC7A9):c.399C>T (p.Ser133=) rs35170371 0.22541
NM_014270.5(SLC7A9):c.*79T>C rs2287884 0.18414
NM_014270.5(SLC7A9):c.-39C>T rs11084677 0.14818
NM_014270.5(SLC7A9):c.478+10T>C rs6510300 0.10753
NM_014270.5(SLC7A9):c.604+10G>A rs11084672 0.09952
NM_014270.5(SLC7A9):c.411T>C (p.Cys137=) rs12150890 0.09440
NM_000341.4(SLC3A1):c.892-6C>G rs114640930 0.00651
NM_000341.4(SLC3A1):c.1572C>T (p.Asn524=) rs149590349 0.00368
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) rs78795495 0.00357
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=) rs115030299 0.00351
NM_000341.4(SLC3A1):c.1012-23C>T rs201121824 0.00284
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser) rs141587158 0.00273
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) rs146630359 0.00260
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=) rs140821819 0.00211
NM_000341.4(SLC3A1):c.1333-12T>A rs183158004 0.00150
NM_000341.4(SLC3A1):c.672A>G (p.Gln224=) rs140331858 0.00121
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=) rs149507807 0.00026
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_000341.4(SLC3A1):c.1149T>C (p.Thr383=)
NM_000341.4(SLC3A1):c.1618-11T>A
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) rs698761
NM_000341.4(SLC3A1):c.765+15G>A
NM_000341.4(SLC3A1):c.892-17del

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