ClinVar Miner

List of variants in gene SLC3A1 reported as likely benign for Cystinuria

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.892-6C>G rs114640930 0.00594
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) rs78795495 0.00338
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) rs140317484 0.00287
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr) rs139310305 0.00076
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser) rs143068960 0.00073
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=) rs144065614 0.00028
NM_000341.4(SLC3A1):c.1012-16G>A rs374386683 0.00025
NM_000341.4(SLC3A1):c.892-13T>G rs186688589 0.00017
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=) rs150870922 0.00012
NM_000341.4(SLC3A1):c.1389C>T (p.Asn463=) rs200800682 0.00009
NM_000341.4(SLC3A1):c.1011+12T>C rs370288046 0.00008
NM_000341.4(SLC3A1):c.1137-3T>C rs555017366 0.00008
NM_000341.4(SLC3A1):c.544G>A (p.Glu182Lys) rs549909989 0.00006
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=) rs760943092 0.00004
NM_000341.4(SLC3A1):c.201G>T (p.Gly67=) rs771021431 0.00004
NM_000341.4(SLC3A1):c.1012-17C>T rs780765619 0.00003
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=) rs557669708 0.00003
NM_000341.4(SLC3A1):c.431-11T>G rs772258572 0.00002
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=) rs772223467 0.00001
NM_000341.4(SLC3A1):c.1326C>T (p.Asn442=) rs368554884 0.00001
NM_000341.4(SLC3A1):c.1332+18C>T rs985367116 0.00001
NM_000341.4(SLC3A1):c.1440T>C (p.Tyr480=) rs2104384051 0.00001
NM_000341.4(SLC3A1):c.264C>T (p.Ile88=) rs770970062 0.00001
NM_000341.4(SLC3A1):c.276C>T (p.Leu92=) rs1671329757 0.00001
NM_000341.4(SLC3A1):c.360G>A (p.Glu120=) rs146205877 0.00001
NM_000341.4(SLC3A1):c.801C>T (p.Asp267=) rs751436314 0.00001
NM_000341.4(SLC3A1):c.892-9C>T rs1335328608 0.00001
NM_000341.4(SLC3A1):c.1002C>T (p.Thr334=)
NM_000341.4(SLC3A1):c.1059G>A (p.Thr353=)
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_000341.4(SLC3A1):c.1136+9C>A rs749975291
NM_000341.4(SLC3A1):c.1137-18C>G rs371320502
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=) rs886056069
NM_000341.4(SLC3A1):c.1263G>T (p.Gly421=) rs2465949563
NM_000341.4(SLC3A1):c.1333-13_1333-12del
NM_000341.4(SLC3A1):c.1365G>A (p.Ser455=) rs555997742
NM_000341.4(SLC3A1):c.1365G>T (p.Ser455=) rs555997742
NM_000341.4(SLC3A1):c.1374G>C (p.Gly458=) rs1402984821
NM_000341.4(SLC3A1):c.141C>T (p.Ser47=) rs760804638
NM_000341.4(SLC3A1):c.1506C>A (p.Thr502=) rs372285764
NM_000341.4(SLC3A1):c.1506C>T (p.Thr502=) rs372285764
NM_000341.4(SLC3A1):c.1539T>C (p.Asn513=)
NM_000341.4(SLC3A1):c.183C>T (p.Gly61=) rs748832562
NM_000341.4(SLC3A1):c.195T>C (p.Tyr65=) rs771831659
NM_000341.4(SLC3A1):c.283G>A (p.Ala95Thr)
NM_000341.4(SLC3A1):c.327C>G (p.Ala109=) rs1480884506
NM_000341.4(SLC3A1):c.330C>G (p.Leu110=)
NM_000341.4(SLC3A1):c.339G>A (p.Lys113=) rs1671332120
NM_000341.4(SLC3A1):c.363G>A (p.Gly121=) rs1671332631
NM_000341.4(SLC3A1):c.531T>A (p.Val177=) rs2466680287
NM_000341.4(SLC3A1):c.567G>C (p.Thr189=) rs143195837
NM_000341.4(SLC3A1):c.610+14A>G rs370095960
NM_000341.4(SLC3A1):c.63C>T (p.Asn21=) rs1313555896
NM_000341.4(SLC3A1):c.685C>A (p.Arg229=)
NM_000341.4(SLC3A1):c.765+13C>G
NM_000341.4(SLC3A1):c.766-4C>G rs2465901408
NM_000341.4(SLC3A1):c.789T>C (p.Ser263=) rs752334508
NM_000341.4(SLC3A1):c.891+12T>C

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