ClinVar Miner

List of variants in gene SLC3A1 studied for inherited renal tubular disease

Included ClinVar conditions (198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 373
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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.1381T>C (p.Tyr461His) rs144162964 0.00044
NM_000341.4(SLC3A1):c.241C>T (p.Arg81Cys) rs149813423 0.00042
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.572A>G (p.Glu191Gly) rs534054965 0.00010
NM_000341.4(SLC3A1):c.1389C>T (p.Asn463=) rs200800682 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.-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.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.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.17G>A (p.Ser6Asn) rs147004629 0.00004
NM_000341.4(SLC3A1):c.201G>T (p.Gly67=) rs771021431 0.00004
NM_000341.4(SLC3A1):c.1074C>T (p.His358=) rs754041697 0.00003
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.769A>G (p.Ser257Gly) rs746309755 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.298C>T (p.Leu100Phe) rs549888282 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.1098G>C (p.Gln366His) rs745473969 0.00001
NM_000341.4(SLC3A1):c.1113C>A (p.Tyr371Ter) rs768467260 0.00001
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=) rs772223467 0.00001
NM_000341.4(SLC3A1):c.1136+10G>A rs755742518 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.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.1326C>T (p.Asn442=) rs368554884 0.00001
NM_000341.4(SLC3A1):c.1332+2T>A rs758627758 0.00001
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg) rs1469809535 0.00001
NM_000341.4(SLC3A1):c.184G>A (p.Val62Ile) rs778587102 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.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_000341.4(SLC3A1):c.67G>A (p.Gly23Arg) rs750919380 0.00001
NM_000341.4(SLC3A1):c.766-2A>C rs201376169 0.00001
NM_000341.4(SLC3A1):c.892-9C>T rs1335328608 0.00001
GRCh37/hg19 2p21(chr2:44507834-44508700)
GRCh37/hg19 2p21(chr2:44527089-44541110)
NC_000002.11:g.(?_44502646)_(44503124_?)del
NC_000002.11:g.(?_44502646)_(44508700_?)del
NC_000002.11:g.(?_44502646)_(44531497_?)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_000002.12:g.(?_44280696)_(44286177_?)del
NC_000002.12:g.44304143del
NG_008233.1:g.17226_17227[ins17227_48142;GTTTGCATAGGCACAGAATGTAT]
NM_000341.3(SLC3A1):c.-65C>T rs886056066
NM_000341.3(SLC3A1):c.-82T>G rs1671316353
NM_000341.4(SLC3A1):c.1002C>T (p.Thr334=)
NM_000341.4(SLC3A1):c.100A>G (p.Thr34Ala)
NM_000341.4(SLC3A1):c.1010C>T (p.Pro337Leu)
NM_000341.4(SLC3A1):c.1011+19C>G
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.1012-9_1012del rs2104364101
NM_000341.4(SLC3A1):c.101C>T (p.Thr34Ile)
NM_000341.4(SLC3A1):c.1031C>T (p.Ser344Leu)
NM_000341.4(SLC3A1):c.1040A>G (p.Tyr347Cys)
NM_000341.4(SLC3A1):c.1045del (p.Asp349fs)
NM_000341.4(SLC3A1):c.1052C>T (p.Thr351Ile)
NM_000341.4(SLC3A1):c.1058C>T (p.Thr353Met)
NM_000341.4(SLC3A1):c.1059G>A (p.Thr353=)
NM_000341.4(SLC3A1):c.1060C>T (p.Gln354Ter)
NM_000341.4(SLC3A1):c.1069A>G (p.Met357Val)
NM_000341.4(SLC3A1):c.1069_1084dup (p.Arg362fs) rs1553344107
NM_000341.4(SLC3A1):c.1079T>C (p.Ile360Thr)
NM_000341.4(SLC3A1):c.1082T>C (p.Val361Ala)
NM_000341.4(SLC3A1):c.1091T>C (p.Phe364Ser)
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln) rs567478582
NM_000341.4(SLC3A1):c.1094G>C (p.Arg365Pro)
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu) rs567478582
NM_000341.4(SLC3A1):c.1102A>G (p.Met368Val)
NM_000341.4(SLC3A1):c.1104G>A (p.Met368Ile)
NM_000341.4(SLC3A1):c.1106A>T (p.Asp369Val)
NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly)
NM_000341.4(SLC3A1):c.1118C>T (p.Thr373Met)
NM_000341.4(SLC3A1):c.1127G>T (p.Gly376Val)
NM_000341.4(SLC3A1):c.1129A>G (p.Arg377Gly)
NM_000341.4(SLC3A1):c.1134C>G (p.Tyr378Ter)
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+5A>G rs1671995727
NM_000341.4(SLC3A1):c.1136+9C>A
NM_000341.4(SLC3A1):c.1137-10A>G
NM_000341.4(SLC3A1):c.1137-18C>G
NM_000341.4(SLC3A1):c.1137-3T>G
NM_000341.4(SLC3A1):c.1145G>T (p.Gly382Val)
NM_000341.4(SLC3A1):c.1149T>C (p.Thr383=)
NM_000341.4(SLC3A1):c.1154C>A (p.Ala385Asp)
NM_000341.4(SLC3A1):c.1157A>C (p.Tyr386Ser)
NM_000341.4(SLC3A1):c.1158T>A (p.Tyr386Ter)
NM_000341.4(SLC3A1):c.1166G>A (p.Ser389Asn)
NM_000341.4(SLC3A1):c.1177A>G (p.Thr393Ala)
NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter)
NM_000341.4(SLC3A1):c.1190A>G (p.Tyr397Cys)
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=) rs886056069
NM_000341.4(SLC3A1):c.1216G>T (p.Asp406Tyr)
NM_000341.4(SLC3A1):c.1219T>G (p.Phe407Val)
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys) rs1672093819
NM_000341.4(SLC3A1):c.1237C>G (p.Leu413Val)
NM_000341.4(SLC3A1):c.1247T>C (p.Leu416Pro)
NM_000341.4(SLC3A1):c.1249G>C (p.Asp417His)
NM_000341.4(SLC3A1):c.124G>C (p.Asp42His) rs1671323312
NM_000341.4(SLC3A1):c.1253C>A (p.Thr418Asn)
NM_000341.4(SLC3A1):c.1253C>G (p.Thr418Ser)
NM_000341.4(SLC3A1):c.1254T>C (p.Thr418=) rs149411180
NM_000341.4(SLC3A1):c.1258T>C (p.Ser420Pro)
NM_000341.4(SLC3A1):c.1258T>G (p.Ser420Ala) rs370023281
NM_000341.4(SLC3A1):c.1263G>T (p.Gly421=)
NM_000341.4(SLC3A1):c.1267A>G (p.Ser423Gly)
NM_000341.4(SLC3A1):c.1274A>G (p.Tyr425Cys)
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) rs797044609
NM_000341.4(SLC3A1):c.1280_1281insCACAATTACCTCAGCATGCTAGACACTGTTTCTGGGAACAGCGTGTATGAGGT (p.Val427_Ile428insThrIleThrSerAlaCysTer)
NM_000341.4(SLC3A1):c.1282A>C (p.Ile428Leu)
NM_000341.4(SLC3A1):c.1307dup (p.Glu437fs)
NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys)
NM_000341.4(SLC3A1):c.1322C>T (p.Pro441Leu)
NM_000341.4(SLC3A1):c.1332+18C>T
NM_000341.4(SLC3A1):c.1332+2dup
NM_000341.4(SLC3A1):c.1333-13_1333-12del
NM_000341.4(SLC3A1):c.1337G>A (p.Gly446Asp)
NM_000341.4(SLC3A1):c.1348A>T (p.Ser450Cys)
NM_000341.4(SLC3A1):c.1364C>G (p.Ser455Trp)
NM_000341.4(SLC3A1):c.1364C>T (p.Ser455Leu)
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.1366C>T (p.Arg456Cys)
NM_000341.4(SLC3A1):c.136C>G (p.His46Asp)
NM_000341.4(SLC3A1):c.1373G>A (p.Gly458Glu)
NM_000341.4(SLC3A1):c.1373G>T (p.Gly458Val)
NM_000341.4(SLC3A1):c.1374G>C (p.Gly458=)
NM_000341.4(SLC3A1):c.1390G>A (p.Val464Met)
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.1401G>C (p.Met467Ile)
NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg) rs2104383996
NM_000341.4(SLC3A1):c.1409dup (p.Thr471fs)
NM_000341.4(SLC3A1):c.1412C>G (p.Thr471Arg)
NM_000341.4(SLC3A1):c.141C>T (p.Ser47=)
NM_000341.4(SLC3A1):c.1420G>A (p.Gly474Arg)
NM_000341.4(SLC3A1):c.1431_1434dup (p.Tyr479fs)
NM_000341.4(SLC3A1):c.1432A>C (p.Thr478Pro)
NM_000341.4(SLC3A1):c.1435T>C (p.Tyr479His)
NM_000341.4(SLC3A1):c.1437C>G (p.Tyr479Ter)
NM_000341.4(SLC3A1):c.1439A>G (p.Tyr480Cys)
NM_000341.4(SLC3A1):c.1440T>C (p.Tyr480=)
NM_000341.4(SLC3A1):c.1442G>A (p.Gly481Glu)
NM_000341.4(SLC3A1):c.1444G>C (p.Glu482Gln)
NM_000341.4(SLC3A1):c.1447G>T (p.Glu483Ter)
NM_000341.4(SLC3A1):c.1453G>A (p.Gly485Arg)
NM_000341.4(SLC3A1):c.148G>A (p.Gly50Ser)
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.1499T>C (p.Ile500Thr)
NM_000341.4(SLC3A1):c.1505C>G (p.Thr502Ser)
NM_000341.4(SLC3A1):c.1506C>A (p.Thr502=)
NM_000341.4(SLC3A1):c.1506C>T (p.Thr502=)
NM_000341.4(SLC3A1):c.1511G>A (p.Arg504His)
NM_000341.4(SLC3A1):c.1523C>A (p.Pro508Gln)
NM_000341.4(SLC3A1):c.1538A>G (p.Asn513Ser)
NM_000341.4(SLC3A1):c.1539T>C (p.Asn513=)
NM_000341.4(SLC3A1):c.1592C>G (p.Ser531Ter) rs2104385536
NM_000341.4(SLC3A1):c.1594G>C (p.Asp532His)
NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn) rs387907276
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs) rs767801148
NM_000341.4(SLC3A1):c.1610A>G (p.Asn537Ser)
NM_000341.4(SLC3A1):c.1612G>A (p.Val538Ile)
NM_000341.4(SLC3A1):c.1617+1097T>A rs868118842
NM_000341.4(SLC3A1):c.1617+1G>A
NM_000341.4(SLC3A1):c.1617+1dup rs2104385579
NM_000341.4(SLC3A1):c.1617+5G>A
NM_000341.4(SLC3A1):c.1617+5G>T
NM_000341.4(SLC3A1):c.163C>T (p.Gln55Ter)
NM_000341.4(SLC3A1):c.163del (p.Gln55fs) rs779932118
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys) rs886056067
NM_000341.4(SLC3A1):c.172G>A (p.Asp58Asn)
NM_000341.4(SLC3A1):c.174C>G (p.Asp58Glu)
NM_000341.4(SLC3A1):c.1764delinsAT (p.Ile589fs)
NM_000341.4(SLC3A1):c.183C>T (p.Gly61=) rs748832562
NM_000341.4(SLC3A1):c.183del (p.Val62fs)
NM_000341.4(SLC3A1):c.1855A>T (p.Arg619Ter)
NM_000341.4(SLC3A1):c.1904C>A (p.Thr635Lys)
NM_000341.4(SLC3A1):c.195T>C (p.Tyr65=)
NM_000341.4(SLC3A1):c.199G>A (p.Gly67Arg)
NM_000341.4(SLC3A1):c.19A>G (p.Lys7Glu)
NM_000341.4(SLC3A1):c.2017T>G (p.Cys673Gly)
NM_000341.4(SLC3A1):c.239C>T (p.Ala80Val)
NM_000341.4(SLC3A1):c.242G>T (p.Arg81Leu)
NM_000341.4(SLC3A1):c.248G>A (p.Arg83His)
NM_000341.4(SLC3A1):c.248G>T (p.Arg83Leu)
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser) rs376615998
NM_000341.4(SLC3A1):c.256C>T (p.Arg86Trp)
NM_000341.4(SLC3A1):c.257G>A (p.Arg86Gln)
NM_000341.4(SLC3A1):c.265C>T (p.Leu89Phe)
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
NM_000341.4(SLC3A1):c.283G>A (p.Ala95Thr)
NM_000341.4(SLC3A1):c.28T>C (p.Ser10Pro)
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala) rs147701210
NM_000341.4(SLC3A1):c.290T>G (p.Val97Gly)
NM_000341.4(SLC3A1):c.292C>A (p.Leu98Met) rs750996109
NM_000341.4(SLC3A1):c.305C>T (p.Ala102Val)
NM_000341.4(SLC3A1):c.322A>T (p.Ile108Phe)
NM_000341.4(SLC3A1):c.327C>G (p.Ala109=)
NM_000341.4(SLC3A1):c.330C>G (p.Leu110=)
NM_000341.4(SLC3A1):c.332C>T (p.Ser111Phe)
NM_000341.4(SLC3A1):c.334C>T (p.Pro112Ser) rs369145783
NM_000341.4(SLC3A1):c.339G>A (p.Lys113=)
NM_000341.4(SLC3A1):c.342_346dup (p.Asp116delinsAlaTer) rs755432720
NM_000341.4(SLC3A1):c.34G>A (p.Glu12Lys)
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.375G>A (p.Gln125=)
NM_000341.4(SLC3A1):c.377T>A (p.Ile126Asn)
NM_000341.4(SLC3A1):c.37A>G (p.Met13Val)
NM_000341.4(SLC3A1):c.415_418del (p.Asn139fs)
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)
NM_000341.4(SLC3A1):c.430+1G>A
NM_000341.4(SLC3A1):c.430+2T>G rs1558450604
NM_000341.4(SLC3A1):c.430+4C>A
NM_000341.4(SLC3A1):c.431-11T>G
NM_000341.4(SLC3A1):c.431-3_464delinsTAAATATA
NM_000341.4(SLC3A1):c.433A>G (p.Ile145Val)
NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)
NM_000341.4(SLC3A1):c.438A>T (p.Gln146His)
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
NM_000341.4(SLC3A1):c.458C>T (p.Thr153Ile)
NM_000341.4(SLC3A1):c.460G>A (p.Ala154Thr)
NM_000341.4(SLC3A1):c.460G>T (p.Ala154Ser) rs766140035
NM_000341.4(SLC3A1):c.470T>C (p.Ile157Thr)
NM_000341.4(SLC3A1):c.475A>C (p.Thr159Pro)
NM_000341.4(SLC3A1):c.478G>C (p.Val160Leu) rs886056068
NM_000341.4(SLC3A1):c.478G>T (p.Val160Phe)
NM_000341.4(SLC3A1):c.503C>A (p.Ser168Ter)
NM_000341.4(SLC3A1):c.531T>A (p.Val177=)
NM_000341.4(SLC3A1):c.533A>C (p.Glu178Ala)
NM_000341.4(SLC3A1):c.541C>T (p.Arg181Trp)
NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln) rs121912694
NM_000341.4(SLC3A1):c.554C>T (p.Pro185Leu)
NM_000341.4(SLC3A1):c.557T>C (p.Ile186Thr)
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.568A>G (p.Met190Val)
NM_000341.4(SLC3A1):c.592G>A (p.Ala198Thr)
NM_000341.4(SLC3A1):c.593C>A (p.Ala198Glu)
NM_000341.4(SLC3A1):c.599T>C (p.Ile200Thr)
NM_000341.4(SLC3A1):c.610+14A>G
NM_000341.4(SLC3A1):c.611-1G>A
NM_000341.4(SLC3A1):c.612T>C (p.Gly204=)
NM_000341.4(SLC3A1):c.618del (p.Lys206fs)
NM_000341.4(SLC3A1):c.620T>G (p.Leu207Ter)
NM_000341.4(SLC3A1):c.628G>A (p.Asp210Asn)
NM_000341.4(SLC3A1):c.637C>G (p.Pro213Ala)
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.640A>T (p.Asn214Tyr)
NM_000341.4(SLC3A1):c.641A>T (p.Asn214Ile)
NM_000341.4(SLC3A1):c.647C>A (p.Thr216Lys)
NM_000341.4(SLC3A1):c.650G>C (p.Ser217Thr)
NM_000341.4(SLC3A1):c.664del (p.Trp222fs)
NM_000341.4(SLC3A1):c.665G>A (p.Trp222Ter)
NM_000341.4(SLC3A1):c.670C>T (p.Gln224Ter) rs542026439
NM_000341.4(SLC3A1):c.673T>G (p.Leu225Val) rs753086483
NM_000341.4(SLC3A1):c.679C>T (p.Arg227Trp)
NM_000341.4(SLC3A1):c.685C>A (p.Arg229=)
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp) rs758636942
NM_000341.4(SLC3A1):c.686G>A (p.Arg229Gln)
NM_000341.4(SLC3A1):c.707del (p.Tyr236fs)
NM_000341.4(SLC3A1):c.714C>G (p.Ile238Met)
NM_000341.4(SLC3A1):c.724T>C (p.Cys242Arg)
NM_000341.4(SLC3A1):c.725G>C (p.Cys242Ser)
NM_000341.4(SLC3A1):c.746C>T (p.Thr249Ile)
NM_000341.4(SLC3A1):c.758A>G (p.Asn253Ser)
NM_000341.4(SLC3A1):c.762C>A (p.Asn254Lys)
NM_000341.4(SLC3A1):c.765+13C>G
NM_000341.4(SLC3A1):c.765+15G>A
NM_000341.4(SLC3A1):c.765+1G>T
NM_000341.4(SLC3A1):c.765+20A>C
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.809G>T (p.Arg270Leu)
NM_000341.4(SLC3A1):c.824T>C (p.Phe275Ser)
NM_000341.4(SLC3A1):c.841G>A (p.Glu281Lys)
NM_000341.4(SLC3A1):c.850G>T (p.Asp284Tyr)
NM_000341.4(SLC3A1):c.851A>C (p.Asp284Ala)
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val) rs933907652
NM_000341.4(SLC3A1):c.867T>G (p.Asn289Lys)
NM_000341.4(SLC3A1):c.891+12T>C
NM_000341.4(SLC3A1):c.891+2T>C rs2104342335
NM_000341.4(SLC3A1):c.891+4A>G
NM_000341.4(SLC3A1):c.891+5G>A
NM_000341.4(SLC3A1):c.892-13T>G
NM_000341.4(SLC3A1):c.892-17T>G
NM_000341.4(SLC3A1):c.892-17del
NM_000341.4(SLC3A1):c.894A>G (p.Glu298=) rs1671960853
NM_000341.4(SLC3A1):c.899del (p.Leu300fs)
NM_000341.4(SLC3A1):c.8A>G (p.Glu3Gly)
NM_000341.4(SLC3A1):c.902G>A (p.Arg301Gln)
NM_000341.4(SLC3A1):c.907T>C (p.Trp303Arg)
NM_000341.4(SLC3A1):c.909G>A (p.Trp303Ter)
NM_000341.4(SLC3A1):c.914C>A (p.Thr305Lys)
NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter) rs768222969
NM_000341.4(SLC3A1):c.919G>C (p.Gly307Arg)
NM_000341.4(SLC3A1):c.928G>A (p.Gly310Ser)
NM_000341.4(SLC3A1):c.929G>A (p.Gly310Asp) rs1671962088
NM_000341.4(SLC3A1):c.946G>A (p.Val316Ile)
NM_000341.4(SLC3A1):c.960_961insTC (p.Glu321fs)
NM_000341.4(SLC3A1):c.97C>G (p.Gln33Glu)
NM_000341.4(SLC3A1):c.982G>T (p.Glu328Ter)
NM_000341.4:c.766-391_1618-2069del

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