ClinVar Miner

List of variants reported as uncertain significance for Cystinuria by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.972G>A (p.Ala324=) rs61730903 0.01386
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=) rs115030299 0.00351
NM_014270.5(SLC7A9):c.522C>T (p.Ser174=) rs142766345 0.00293
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) rs140317484 0.00287
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_014270.5(SLC7A9):c.*8C>T rs145079057 0.00187
NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile) rs138744722 0.00160
NM_001171613.2(PREPL):c.*561A>G rs546219789 0.00152
NM_014270.5(SLC7A9):c.1161C>T (p.Gly387=) rs147267783 0.00127
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_014270.5(SLC7A9):c.1059C>T (p.Pro353=) rs139388814 0.00069
NM_014270.5(SLC7A9):c.1404G>A (p.Pro468=) rs141142633 0.00058
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=) rs142141929 0.00056
NM_014270.5(SLC7A9):c.*82C>T rs537630298 0.00046
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_014270.5(SLC7A9):c.-26G>T rs375495587 0.00042
NM_014270.5(SLC7A9):c.183T>A (p.Ala61=) rs142721539 0.00040
NM_014270.5(SLC7A9):c.723C>T (p.Ile241=) rs146682721 0.00035
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_014270.5(SLC7A9):c.829G>A (p.Val277Met) rs147344717 0.00024
NM_014270.5(SLC7A9):c.1199G>A (p.Arg400Lys) rs202069562 0.00018
NM_014270.5(SLC7A9):c.369G>A (p.Thr123=) rs144880180 0.00016
NM_014270.5(SLC7A9):c.988G>A (p.Val330Met) rs201618022 0.00014
NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His) rs138086959 0.00013
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=) rs150870922 0.00012
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys) rs121908487 0.00012
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His) rs370262167 0.00011
NM_014270.5(SLC7A9):c.1338C>T (p.Ser446=) rs199552160 0.00011
NM_014270.5(SLC7A9):c.324C>T (p.Pro108=) rs375773222 0.00011
NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly) rs534054965 0.00010
NM_014270.5(SLC7A9):c.419T>C (p.Phe140Ser) rs752881588 0.00010
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=) rs148703534 0.00009
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp) rs150557210 0.00009
NM_000341.4(SLC3A1):c.1012G>C (p.Asp338His) rs140452488 0.00008
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys) rs148946634 0.00007
NM_000341.4(SLC3A1):c.-16C>T rs372603963 0.00006
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) rs375399468 0.00006
NM_000341.4(SLC3A1):c.1613T>C (p.Val538Ala) rs772556641 0.00006
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val) rs200093674 0.00006
NM_000341.4(SLC3A1):c.1137-3T>C rs555017366 0.00005
NM_000341.4(SLC3A1):c.935G>C (p.Ser312Thr) rs201325919 0.00005
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=) rs760943092 0.00004
NM_000341.4(SLC3A1):c.1136+9C>T rs749975291 0.00004
NM_000341.4(SLC3A1):c.1179C>T (p.Thr393=) rs778276427 0.00004
NM_000341.4(SLC3A1):c.1383T>C (p.Tyr461=) rs769816876 0.00004
NM_000341.4(SLC3A1):c.201G>T (p.Gly67=) rs771021431 0.00004
NM_014270.5(SLC7A9):c.-119G>A rs886054331 0.00004
NM_014270.5(SLC7A9):c.1446G>A (p.Pro482=) rs144616352 0.00004
NM_014270.5(SLC7A9):c.780C>T (p.Ile260=) rs886054329 0.00004
NM_000341.4(SLC3A1):c.1074C>T (p.His358=) rs754041697 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.769A>G (p.Ser257Gly) rs746309755 0.00003
NM_014270.5(SLC7A9):c.-159G>A rs768949145 0.00003
NM_014270.5(SLC7A9):c.-90G>A rs886054330 0.00003
NM_014270.5(SLC7A9):c.448G>A (p.Val150Ile) rs768355648 0.00003
NM_014270.5(SLC7A9):c.827C>T (p.Thr276Ile) rs886054328 0.00003
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_000341.4(SLC3A1):c.298C>T (p.Leu100Phe) rs549888282 0.00002
NM_014270.5(SLC7A9):c.1074+14C>A rs367844535 0.00002
NM_014270.5(SLC7A9):c.1399A>G (p.Lys467Glu) rs201241670 0.00002
NM_014270.5(SLC7A9):c.813C>T (p.Asn271=) rs371236313 0.00002
NM_000341.4(SLC3A1):c.1063G>A (p.Val355Met) rs141061483 0.00001
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697 0.00001
NM_000341.4(SLC3A1):c.1136+10G>A rs755742518 0.00001
NM_000341.4(SLC3A1):c.1227C>T (p.Phe409=) rs1264045792 0.00001
NM_000341.4(SLC3A1):c.1250A>T (p.Asp417Val) rs1378685455 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.1626G>T (p.Lys542Asn) rs886056071 0.00001
NM_000341.4(SLC3A1):c.1810C>T (p.Leu604=) rs770801300 0.00001
NM_000341.4(SLC3A1):c.1840C>A (p.Leu614Ile) rs199685360 0.00001
NM_000341.4(SLC3A1):c.184G>A (p.Val62Ile) rs778587102 0.00001
NM_000341.4(SLC3A1):c.1881C>T (p.Ala627=) rs763292534 0.00001
NM_000341.4(SLC3A1):c.303C>T (p.Ile101=) rs752281627 0.00001
NM_000341.4(SLC3A1):c.395A>G (p.Lys132Arg) rs148787131 0.00001
NM_000341.4(SLC3A1):c.439G>C (p.Asp147His) rs747368911 0.00001
NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val) rs757439376 0.00001
NM_000341.4(SLC3A1):c.597C>A (p.Ala199=) rs1318112597 0.00001
NM_001171613.2(PREPL):c.*608T>C rs755700908 0.00001
NM_001171613.2(PREPL):c.*617A>G rs886056074 0.00001
NM_014270.5(SLC7A9):c.*20C>T rs773144504 0.00001
NM_014270.5(SLC7A9):c.-133C>A rs1019636549 0.00001
NM_014270.5(SLC7A9):c.1225-8G>A rs374629909 0.00001
NM_014270.5(SLC7A9):c.177G>A (p.Thr59=) rs771205937 0.00001
NM_014270.5(SLC7A9):c.302T>A (p.Met101Lys) rs771811712 0.00001
NM_014270.5(SLC7A9):c.30A>G (p.Arg10=) rs765983557 0.00001
NM_014270.5(SLC7A9):c.639C>T (p.Gly213=) rs763216072 0.00001
NM_014270.5(SLC7A9):c.922T>C (p.Phe308Leu) rs770811201 0.00001
NM_000341.3(SLC3A1):c.-65C>T rs886056066
NM_000341.3(SLC3A1):c.-82T>G rs1671316353
NM_000341.4(SLC3A1):c.1136+5A>G rs1671995727
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=) rs886056069
NM_000341.4(SLC3A1):c.124G>C (p.Asp42His) rs1671323312
NM_000341.4(SLC3A1):c.1254T>C (p.Thr418=) rs149411180
NM_000341.4(SLC3A1):c.1258T>G (p.Ser420Ala) rs370023281
NM_000341.4(SLC3A1):c.1494T>C (p.Tyr498=) rs141515737
NM_000341.4(SLC3A1):c.1495G>T (p.Asp499Tyr) rs886056070
NM_000341.4(SLC3A1):c.1641G>T (p.Ser547=) rs371537299
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys) rs886056067
NM_000341.4(SLC3A1):c.1742T>G (p.Val581Gly) rs886056072
NM_000341.4(SLC3A1):c.1854_1859del (p.Met618_Arg619del) rs886056073
NM_000341.4(SLC3A1):c.1934G>C (p.Gly645Ala) rs1672839012
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser) rs376615998
NM_000341.4(SLC3A1):c.460G>T (p.Ala154Ser) rs766140035
NM_000341.4(SLC3A1):c.478G>C (p.Val160Leu) rs886056068
NM_000341.4(SLC3A1):c.673T>G (p.Leu225Val) rs753086483
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp) rs758636942
NM_000341.4(SLC3A1):c.894A>G (p.Glu298=) rs1671960853
NM_014270.5(SLC7A9):c.*77T>C rs886054327
NM_014270.5(SLC7A9):c.1112_1113del (p.Ile371fs) rs772235897
NM_014270.5(SLC7A9):c.1242C>A (p.Pro414=) rs536084711
NM_014270.5(SLC7A9):c.1276C>T (p.Leu426=) rs760033221

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.