ClinVar Miner

List of variants studied for Cystinuria by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=) rs3738985 0.75388
NM_014270.5(SLC7A9):c.-172T>A rs2287876 0.63605
NM_000341.4(SLC3A1):c.*131T>C rs8886 0.63254
NM_000341.4(SLC3A1):c.1332+7C>T rs3738984 0.61143
NM_014270.5(SLC7A9):c.425T>C (p.Val142Ala) rs12150889 0.34607
NM_014270.5(SLC7A9):c.507C>T (p.Ser169=) rs11084673 0.32264
NM_014270.5(SLC7A9):c.687C>T (p.Leu229=) rs1007161 0.31957
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met) rs1007160 0.31494
NM_014270.5(SLC7A9):c.1143C>T (p.Ala381=) rs2287881 0.22846
NM_014270.5(SLC7A9):c.399C>T (p.Ser133=) rs35170371 0.22541
NM_014270.5(SLC7A9):c.*79T>C rs2287884 0.18414
NM_014270.5(SLC7A9):c.-39C>T rs11084677 0.14818
NM_014270.5(SLC7A9):c.478+10T>C rs6510300 0.10753
NM_014270.5(SLC7A9):c.604+10G>A rs11084672 0.09952
NM_014270.5(SLC7A9):c.411T>C (p.Cys137=) rs12150890 0.09440
NM_014270.5(SLC7A9):c.1365C>T (p.Val455=) rs34347941 0.02214
NM_014270.5(SLC7A9):c.972G>A (p.Ala324=) rs61730903 0.01386
NM_014270.5(SLC7A9):c.1119G>A (p.Ser373=) rs111630604 0.00913
NM_014270.5(SLC7A9):c.228G>C (p.Ala76=) rs34310174 0.00749
NM_000341.4(SLC3A1):c.892-6C>G rs114640930 0.00594
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=) rs115030299 0.00351
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) rs78795495 0.00338
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 0.00250
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00239
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=) rs140821819 0.00211
NM_014270.5(SLC7A9):c.*8C>T rs145079057 0.00187
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile) rs138744722 0.00160
NM_000341.4(SLC3A1):c.*156T>C rs546219789 0.00152
NM_014270.5(SLC7A9):c.1161C>T (p.Gly387=) rs147267783 0.00127
NM_014270.5(SLC7A9):c.1403C>T (p.Pro468Leu) rs80283711 0.00089
NM_014270.5(SLC7A9):c.1059C>T (p.Pro353=) rs139388814 0.00079
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_014270.5(SLC7A9):c.1404G>A (p.Pro468=) rs141142633 0.00054
NM_014270.5(SLC7A9):c.*82C>T rs537630298 0.00052
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 0.00038
NM_014270.5(SLC7A9):c.723C>T (p.Ile241=) rs146682721 0.00036
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=) rs144065614 0.00028
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.368C>T (p.Thr123Met) rs79987078 0.00023
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00018
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp) rs150557210 0.00017
NM_014270.5(SLC7A9):c.1199G>A (p.Arg400Lys) rs202069562 0.00017
NM_014270.5(SLC7A9):c.369G>A (p.Thr123=) rs144880180 0.00016
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=) rs150870922 0.00012
NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His) rs138086959 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_000341.4(SLC3A1):c.572A>G (p.Glu191Gly) rs534054965 0.00010
NM_014270.5(SLC7A9):c.324C>T (p.Pro108=) rs375773222 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.1012G>C (p.Asp338His) rs140452488 0.00008
NM_000341.4(SLC3A1):c.1137-3T>C rs555017366 0.00008
NM_000341.4(SLC3A1):c.-16C>T rs372603963 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.1354C>T (p.Arg452Trp) rs201502095 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_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser) rs200592320 0.00005
NM_014270.5(SLC7A9):c.1446G>A (p.Pro482=) rs144616352 0.00005
NM_000341.4(SLC3A1):c.1074C>T (p.His358=) rs754041697 0.00004
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=) rs760943092 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_000341.4(SLC3A1):c.935G>C (p.Ser312Thr) rs201325919 0.00004
NM_014270.5(SLC7A9):c.-119G>A rs886054331 0.00004
NM_014270.5(SLC7A9):c.1074+14C>A rs367844535 0.00004
NM_014270.5(SLC7A9):c.780C>T (p.Ile260=) rs886054329 0.00004
NM_000341.4(SLC3A1):c.1136+9C>T rs749975291 0.00003
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=) rs557669708 0.00003
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys) rs201143887 0.00003
NM_000341.4(SLC3A1):c.184G>A (p.Val62Ile) rs778587102 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.1399A>G (p.Lys467Glu) rs201241670 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.*109A>G rs755700908 0.00002
NM_000341.4(SLC3A1):c.1063G>A (p.Val355Met) rs141061483 0.00002
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697 0.00002
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_014270.5(SLC7A9):c.813C>T (p.Asn271=) rs371236313 0.00002
NM_000341.3(SLC3A1):c.-82T>G rs1671316353 0.00001
NM_000341.4(SLC3A1):c.*100T>C rs886056074 0.00001
NM_000341.4(SLC3A1):c.1136+10G>A rs755742518 0.00001
NM_000341.4(SLC3A1):c.1136+5A>G rs1671995727 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.1626G>T (p.Lys542Asn) rs886056071 0.00001
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys) rs886056067 0.00001
NM_000341.4(SLC3A1):c.1742T>G (p.Val581Gly) rs886056072 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.1881C>T (p.Ala627=) rs763292534 0.00001
NM_000341.4(SLC3A1):c.298C>T (p.Leu100Phe) rs549888282 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_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.1276C>T (p.Leu426=) rs760033221 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_000341.4(SLC3A1):c.1136+3del rs796262035
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.1854G>A (p.Met618Ile) rs698761
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.1242C>A (p.Pro414=) rs536084711
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034

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