ClinVar Miner

List of variants studied for Cystinuria by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 208
Download table as spreadsheet
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.566C>T (p.Thr189Met) rs140317484 0.00287
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.1400T>C (p.Met467Thr) rs121912691 0.00175
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.788G>C (p.Ser263Thr) rs139310305 0.00076
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser) rs143068960 0.00073
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=) rs142141929 0.00056
NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr) rs143740561 0.00051
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His) rs144162964 0.00044
NM_000341.4(SLC3A1):c.241C>T (p.Arg81Cys) rs149813423 0.00042
NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn) rs200436145 0.00039
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val) rs138597262 0.00037
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00028
NM_000341.4(SLC3A1):c.544G>A (p.Glu182Lys) rs549909989 0.00027
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=) rs144065614 0.00026
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=) rs149507807 0.00026
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln) rs142469446 0.00025
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_000341.4(SLC3A1):c.901C>T (p.Arg301Trp) rs200001296 0.00019
NM_000341.4(SLC3A1):c.863G>A (p.Arg288His) rs375237049 0.00016
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr) rs201989712 0.00014
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=) rs150870922 0.00012
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His) rs370262167 0.00011
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=) rs148703534 0.00009
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu) rs141944551 0.00009
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp) rs150557210 0.00009
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000341.4(SLC3A1):c.1011+12T>C rs370288046 0.00008
NM_000341.4(SLC3A1):c.1012G>C (p.Asp338His) rs140452488 0.00008
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00007
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys) rs148946634 0.00007
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) rs375399468 0.00006
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val) rs200093674 0.00006
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp) rs765828196 0.00005
NM_000341.4(SLC3A1):c.1137-3T>C rs555017366 0.00005
NM_000341.4(SLC3A1):c.569T>C (p.Met190Thr) rs772817732 0.00005
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=) rs760943092 0.00004
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser) rs146963107 0.00004
NM_000341.4(SLC3A1):c.17G>A (p.Ser6Asn) rs147004629 0.00004
NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala) rs781253461 0.00004
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr) rs187962930 0.00003
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys) rs201143887 0.00003
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser) rs200592320 0.00003
NM_000341.4(SLC3A1):c.1157A>G (p.Tyr386Cys) rs764849767 0.00002
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_000341.4(SLC3A1):c.1098G>C (p.Gln366His) rs745473969 0.00001
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=) rs772223467 0.00001
NM_000341.4(SLC3A1):c.1181T>C (p.Val394Ala) rs1238384854 0.00001
NM_000341.4(SLC3A1):c.1199C>T (p.Pro400Leu) rs759029819 0.00001
NM_000341.4(SLC3A1):c.1259C>G (p.Ser420Cys) rs1031709288 0.00001
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=) rs557669708 0.00001
NM_000341.4(SLC3A1):c.1326C>T (p.Asn442=) rs368554884 0.00001
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg) rs1469809535 0.00001
NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs) rs777575410 0.00001
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His) rs776729515 0.00001
NM_000341.4(SLC3A1):c.1921G>T (p.Asp641Tyr) rs267599386 0.00001
NM_000341.4(SLC3A1):c.1991A>G (p.Asp664Gly) rs377448239 0.00001
NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter) rs1361526419 0.00001
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs) rs777149216 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.67G>A (p.Gly23Arg) rs750919380 0.00001
NM_000341.4(SLC3A1):c.892-9C>T rs1335328608 0.00001
NC_000002.11:g.(?_44502646)_(44586854_?)del
NC_000002.11:g.(?_44507835)_(44508700_?)del
NC_000002.11:g.(?_44508506)_(44508700_?)dup
NC_000002.11:g.(?_44508506)_(44541110_?)del
NC_000002.11:g.(?_44527090)_(44528286_?)del
NC_000002.11:g.(?_44527090)_(44541110_?)del
NC_000002.11:g.(?_44527090)_(44541110_?)dup
NC_000002.11:g.(?_44527110)_(44545243_?)dup
NC_000002.11:g.(?_44527110)_(44550550_?)del
NC_000002.11:g.(?_44547318)_(44586854_?)del
NC_000002.12:g.(?_44280696)_(44286177_?)del
NC_000002.12:g.(?_44280696)_(44346410_?)del
NC_000002.12:g.(?_44299971)_(44318104_?)del
NC_000002.12:g.(?_44320179)_(44346410_?)del
NC_000002.12:g.44304143del
NM_000341.4(SLC3A1):c.100A>G (p.Thr34Ala)
NM_000341.4(SLC3A1):c.1010C>T (p.Pro337Leu)
NM_000341.4(SLC3A1):c.1011+3A>G rs1206425661
NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=) rs772810111
NM_000341.4(SLC3A1):c.1012-11G>A
NM_000341.4(SLC3A1):c.1012-16G>A
NM_000341.4(SLC3A1):c.1012-17C>T
NM_000341.4(SLC3A1):c.1012-3A>G
NM_000341.4(SLC3A1):c.1082T>C (p.Val361Ala)
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln) rs567478582
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu) rs567478582
NM_000341.4(SLC3A1):c.1104G>A (p.Met368Ile)
NM_000341.4(SLC3A1):c.1136+1G>T
NM_000341.4(SLC3A1):c.1136+2T>C
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_000341.4(SLC3A1):c.1136+9C>A
NM_000341.4(SLC3A1):c.1137-18C>G
NM_000341.4(SLC3A1):c.1149T>C (p.Thr383=)
NM_000341.4(SLC3A1):c.1157A>C (p.Tyr386Ser)
NM_000341.4(SLC3A1):c.1166G>A (p.Ser389Asn)
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=) rs886056069
NM_000341.4(SLC3A1):c.1237C>G (p.Leu413Val)
NM_000341.4(SLC3A1):c.1253C>A (p.Thr418Asn)
NM_000341.4(SLC3A1):c.1258T>C (p.Ser420Pro)
NM_000341.4(SLC3A1):c.1263G>T (p.Gly421=)
NM_000341.4(SLC3A1):c.1307dup (p.Glu437fs)
NM_000341.4(SLC3A1):c.1332+18C>T
NM_000341.4(SLC3A1):c.1364C>G (p.Ser455Trp)
NM_000341.4(SLC3A1):c.1365G>A (p.Ser455=)
NM_000341.4(SLC3A1):c.1365G>T (p.Ser455=)
NM_000341.4(SLC3A1):c.1366C>A (p.Arg456Ser) rs139251285
NM_000341.4(SLC3A1):c.1374G>C (p.Gly458=)
NM_000341.4(SLC3A1):c.1394T>C (p.Met465Thr)
NM_000341.4(SLC3A1):c.13A>G (p.Lys5Glu)
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg) rs2104383996
NM_000341.4(SLC3A1):c.1412C>G (p.Thr471Arg)
NM_000341.4(SLC3A1):c.141C>T (p.Ser47=)
NM_000341.4(SLC3A1):c.1435T>C (p.Tyr479His)
NM_000341.4(SLC3A1):c.1440T>C (p.Tyr480=)
NM_000341.4(SLC3A1):c.1506C>A (p.Thr502=)
NM_000341.4(SLC3A1):c.1506C>T (p.Thr502=)
NM_000341.4(SLC3A1):c.1523C>A (p.Pro508Gln)
NM_000341.4(SLC3A1):c.1592C>G (p.Ser531Ter) rs2104385536
NM_000341.4(SLC3A1):c.1594G>C (p.Asp532His)
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs) rs767801148
NM_000341.4(SLC3A1):c.1612G>A (p.Val538Ile)
NM_000341.4(SLC3A1):c.1618-11T>A
NM_000341.4(SLC3A1):c.1618-16T>C
NM_000341.4(SLC3A1):c.1618-5A>T
NM_000341.4(SLC3A1):c.163del (p.Gln55fs) rs779932118
NM_000341.4(SLC3A1):c.1640C>A (p.Ser547Ter)
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu) rs368796166
NM_000341.4(SLC3A1):c.1653A>G (p.Leu551=)
NM_000341.4(SLC3A1):c.1684G>C (p.Glu562Gln)
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser) rs904926333
NM_000341.4(SLC3A1):c.1702G>A (p.Gly568Ser)
NM_000341.4(SLC3A1):c.1749_1750del (p.Glu585fs) rs1672820246
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000341.4(SLC3A1):c.1756C>T (p.Leu586=)
NM_000341.4(SLC3A1):c.1812_1813del (p.Leu605fs)
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del) rs1672827519
NM_000341.4(SLC3A1):c.1836G>C (p.Ser612=) rs376256364
NM_000341.4(SLC3A1):c.183C>T (p.Gly61=) rs748832562
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) rs698761
NM_000341.4(SLC3A1):c.1882G>A (p.Asp628Asn)
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)
NM_000341.4(SLC3A1):c.1954A>G (p.Thr652Ala)
NM_000341.4(SLC3A1):c.195T>C (p.Tyr65=)
NM_000341.4(SLC3A1):c.1974C>A (p.Arg658=)
NM_000341.4(SLC3A1):c.1975C>T (p.Gln659Ter)
NM_000341.4(SLC3A1):c.2022T>C (p.Tyr674=)
NM_000341.4(SLC3A1):c.2027G>A (p.Ser676Asn)
NM_000341.4(SLC3A1):c.2054G>A (p.Cys685Tyr)
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala) rs147701210
NM_000341.4(SLC3A1):c.322A>T (p.Ile108Phe)
NM_000341.4(SLC3A1):c.327C>G (p.Ala109=)
NM_000341.4(SLC3A1):c.339G>A (p.Lys113=)
NM_000341.4(SLC3A1):c.360G>A (p.Glu120=)
NM_000341.4(SLC3A1):c.363G>A (p.Gly121=) rs1671332631
NM_000341.4(SLC3A1):c.368T>C (p.Met123Thr)
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)
NM_000341.4(SLC3A1):c.430+2T>G rs1558450604
NM_000341.4(SLC3A1):c.431-11T>G
NM_000341.4(SLC3A1):c.438A>T (p.Gln146His)
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
NM_000341.4(SLC3A1):c.531T>A (p.Val177=)
NM_000341.4(SLC3A1):c.554C>T (p.Pro185Leu)
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys) rs140317484
NM_000341.4(SLC3A1):c.567G>C (p.Thr189=) rs143195837
NM_000341.4(SLC3A1):c.610+14A>G
NM_000341.4(SLC3A1):c.612T>C (p.Gly204=)
NM_000341.4(SLC3A1):c.620T>G (p.Leu207Ter)
NM_000341.4(SLC3A1):c.628G>A (p.Asp210Asn)
NM_000341.4(SLC3A1):c.638C>G (p.Pro213Arg) rs369603431
NM_000341.4(SLC3A1):c.63C>T (p.Asn21=) rs1313555896
NM_000341.4(SLC3A1):c.670C>T (p.Gln224Ter) rs542026439
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp) rs758636942
NM_000341.4(SLC3A1):c.686G>A (p.Arg229Gln)
NM_000341.4(SLC3A1):c.724T>C (p.Cys242Arg)
NM_000341.4(SLC3A1):c.725G>C (p.Cys242Ser)
NM_000341.4(SLC3A1):c.762C>A (p.Asn254Lys)
NM_000341.4(SLC3A1):c.765+15G>A
NM_000341.4(SLC3A1):c.765G>C (p.Trp255Cys)
NM_000341.4(SLC3A1):c.766-4C>G
NM_000341.4(SLC3A1):c.774_775del (p.Tyr259fs)
NM_000341.4(SLC3A1):c.782_804del (p.Asn261fs) rs747035900
NM_000341.4(SLC3A1):c.789T>C (p.Ser263=)
NM_000341.4(SLC3A1):c.801C>T (p.Asp267=)
NM_000341.4(SLC3A1):c.824T>C (p.Phe275Ser)
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val) rs933907652
NM_000341.4(SLC3A1):c.891+2T>C rs2104342335
NM_000341.4(SLC3A1):c.892-13T>G
NM_000341.4(SLC3A1):c.892-17del
NM_000341.4(SLC3A1):c.8A>G (p.Glu3Gly)
NM_000341.4(SLC3A1):c.902G>A (p.Arg301Gln)
NM_000341.4(SLC3A1):c.919G>C (p.Gly307Arg)
NM_000341.4(SLC3A1):c.929G>A (p.Gly310Asp) rs1671962088

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.