ClinVar Miner

List of variants reported as likely pathogenic for Cystinuria

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00028
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu) rs141944551 0.00009
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00007
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp) rs765828196 0.00005
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His) rs776729515 0.00001
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs) rs777149216 0.00001
NM_000341.4(SLC3A1):c.766-2A>C rs201376169 0.00001
NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val) rs769448665 0.00001
NM_014270.5(SLC7A9):c.88-2A>G rs1085307095 0.00001
NC_000002.11:g.(?_44508506)_(44508700_?)dup
NC_000002.11:g.(?_44508506)_(44541110_?)del
NC_000002.12:g.(?_44280696)_(44346410_?)del
NM_000341.4(SLC3A1):c.1011+3A>G rs1206425661
NM_000341.4(SLC3A1):c.1012-9_1012del rs2104364101
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu) rs567478582
NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly)
NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter)
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys) rs1672093819
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) rs797044609
NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys)
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs) rs767801148
NM_000341.4(SLC3A1):c.1617+1dup rs2104385579
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000341.4(SLC3A1):c.1772_1773del (p.Arg591fs)
NM_000341.4(SLC3A1):c.1820del (p.Leu607fs)
NM_000341.4(SLC3A1):c.183del (p.Val62fs)
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
NM_000341.4(SLC3A1):c.430+2T>G rs1558450604
NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
NM_000341.4(SLC3A1):c.891+2T>C rs2104342335
NM_000341.4(SLC3A1):c.891+4A>G
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)
NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs) rs779653925
NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter) rs988712826
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=) rs753121162
NM_014270.5(SLC7A9):c.265del (p.Thr88_Met89insTer) rs2145846311
NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp) rs12150890
NM_014270.5(SLC7A9):c.450_452del (p.Val151del) rs1294838201
NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter)
NM_014270.5(SLC7A9):c.749+1G>C rs1060499787
NM_016343.4(CENPF):c.997_1012del (p.Glu333fs) rs1657525413
Single allele

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