ClinVar Miner

List of variants reported as benign for Cystinuria by Invitae

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=) rs3738985 0.75388
NM_000341.4(SLC3A1):c.1332+7C>T rs3738984 0.61143
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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