ClinVar Miner

List of variants in gene SLC19A3 reported as uncertain significance for thiamine-responsive dysfunction syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 260
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.*2139G>A rs554398899 0.00218
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_025243.4(SLC19A3):c.-52T>C rs572061835 0.00123
NM_025243.4(SLC19A3):c.*1320C>T rs536282437 0.00113
NM_025243.4(SLC19A3):c.*1905G>A rs140032700 0.00096
NM_025243.4(SLC19A3):c.*1339C>T rs540235103 0.00090
NM_025243.4(SLC19A3):c.*2050C>T rs112640330 0.00078
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) rs145288025 0.00073
NM_025243.4(SLC19A3):c.*2159G>A rs537737062 0.00071
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930 0.00067
NM_025243.4(SLC19A3):c.*1256C>T rs191669498 0.00064
NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His) rs144817990 0.00059
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) rs199558186 0.00041
NM_025243.4(SLC19A3):c.*1630G>T rs186778173 0.00031
NM_025243.4(SLC19A3):c.*1889T>C rs1040331392 0.00028
NM_025243.4(SLC19A3):c.*1121G>A rs539114374 0.00027
NM_025243.4(SLC19A3):c.382T>C (p.Tyr128His) rs1423798302 0.00022
NM_025243.4(SLC19A3):c.*575G>A rs528139519 0.00016
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val) rs747823282 0.00016
NM_025243.4(SLC19A3):c.*204G>A rs560082192 0.00013
NM_025243.4(SLC19A3):c.865A>G (p.Thr289Ala) rs746272588 0.00012
NM_025243.4(SLC19A3):c.883G>A (p.Val295Ile) rs754406086 0.00012
NM_025243.4(SLC19A3):c.*1517T>C rs575955380 0.00011
NM_025243.4(SLC19A3):c.*1818T>A rs189430957 0.00010
NM_025243.4(SLC19A3):c.680G>A (p.Gly227Asp) rs139464512 0.00010
NM_025243.4(SLC19A3):c.*1842T>A rs561263131 0.00009
NM_025243.4(SLC19A3):c.*300G>A rs886055760 0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) rs780569649 0.00009
NM_025243.4(SLC19A3):c.1441G>A (p.Val481Met) rs368717276 0.00008
NM_025243.4(SLC19A3):c.373G>A (p.Ala125Thr) rs996377339 0.00008
NM_025243.4(SLC19A3):c.481T>C (p.Leu161=) rs375099581 0.00007
NM_025243.4(SLC19A3):c.914A>G (p.Tyr305Cys) rs189540672 0.00007
NM_025243.4(SLC19A3):c.*685G>A rs886055759 0.00006
NM_025243.4(SLC19A3):c.494C>A (p.Ala165Glu) rs144223086 0.00006
NM_025243.4(SLC19A3):c.781G>A (p.Val261Ile) rs779016400 0.00006
NM_025243.4(SLC19A3):c.*176A>G rs886055761 0.00005
NM_025243.4(SLC19A3):c.*2129A>G rs561270970 0.00005
NM_025243.4(SLC19A3):c.1355T>C (p.Ile452Thr) rs140706520 0.00005
NM_025243.4(SLC19A3):c.400G>A (p.Glu134Lys) rs755314399 0.00005
NM_025243.4(SLC19A3):c.482T>C (p.Leu161Ser) rs749604833 0.00005
NM_025243.4(SLC19A3):c.980G>A (p.Gly327Glu) rs1248803297 0.00005
NM_025243.4(SLC19A3):c.*1072A>C rs886055755 0.00004
NM_025243.4(SLC19A3):c.*1264A>G rs553308770 0.00004
NM_025243.4(SLC19A3):c.*59T>C rs991975369 0.00004
NM_025243.4(SLC19A3):c.1442T>C (p.Val481Ala) rs779422483 0.00004
NM_025243.4(SLC19A3):c.172G>A (p.Val58Ile) rs200412423 0.00004
NM_025243.4(SLC19A3):c.*1355G>A rs1247435862 0.00003
NM_025243.4(SLC19A3):c.1024G>A (p.Asp342Asn) rs376305641 0.00003
NM_025243.4(SLC19A3):c.1054T>C (p.Phe352Leu) rs757809128 0.00003
NM_025243.4(SLC19A3):c.1166T>C (p.Ile389Thr) rs149282475 0.00003
NM_025243.4(SLC19A3):c.1364T>G (p.Met455Arg) rs1308805272 0.00003
NM_025243.4(SLC19A3):c.982G>A (p.Ala328Thr) rs764278369 0.00003
NM_025243.4(SLC19A3):c.-2-11C>A rs759915200 0.00002
NM_025243.4(SLC19A3):c.1205G>A (p.Arg402His) rs779378165 0.00002
NM_025243.4(SLC19A3):c.1225A>C (p.Ile409Leu) rs749551153 0.00002
NM_025243.4(SLC19A3):c.1306A>C (p.Ser436Arg) rs772754355 0.00002
NM_025243.4(SLC19A3):c.259G>T (p.Gly87Cys) rs200102807 0.00002
NM_025243.4(SLC19A3):c.275T>C (p.Ile92Thr) rs537995579 0.00002
NM_025243.4(SLC19A3):c.448G>A (p.Ala150Thr) rs117013375 0.00002
NM_025243.4(SLC19A3):c.488C>T (p.Ser163Phe) rs898880170 0.00002
NM_025243.4(SLC19A3):c.539T>C (p.Val180Ala) rs761311668 0.00002
NM_025243.4(SLC19A3):c.607C>T (p.Pro203Ser) rs767146802 0.00002
NM_025243.4(SLC19A3):c.679G>A (p.Gly227Ser) rs987409474 0.00002
NM_025243.4(SLC19A3):c.*1059C>G rs886055756 0.00001
NM_025243.4(SLC19A3):c.*106A>G rs886055762 0.00001
NM_025243.4(SLC19A3):c.*289A>G rs1695043276 0.00001
NM_025243.4(SLC19A3):c.100T>G (p.Phe34Val) rs201603239 0.00001
NM_025243.4(SLC19A3):c.1070C>T (p.Ala357Val) rs778139709 0.00001
NM_025243.4(SLC19A3):c.1099G>A (p.Ala367Thr) rs1233252115 0.00001
NM_025243.4(SLC19A3):c.10T>A (p.Tyr4Asn) rs1319391961 0.00001
NM_025243.4(SLC19A3):c.1118A>G (p.Tyr373Cys) rs1131691470 0.00001
NM_025243.4(SLC19A3):c.1154T>C (p.Leu385Pro) rs563607795 0.00001
NM_025243.4(SLC19A3):c.1183G>T (p.Ala395Ser) rs747446540 0.00001
NM_025243.4(SLC19A3):c.1215G>T (p.Leu405Phe) rs755120020 0.00001
NM_025243.4(SLC19A3):c.127G>A (p.Asp43Asn) rs773678018 0.00001
NM_025243.4(SLC19A3):c.1280A>G (p.Asp427Gly) rs1287180895 0.00001
NM_025243.4(SLC19A3):c.1314+1G>A rs141957107 0.00001
NM_025243.4(SLC19A3):c.1382C>A (p.Thr461Asn) rs1695061518 0.00001
NM_025243.4(SLC19A3):c.1406A>T (p.Asp469Val) rs1373661310 0.00001
NM_025243.4(SLC19A3):c.1409T>G (p.Val470Gly) rs1049927448 0.00001
NM_025243.4(SLC19A3):c.1412A>G (p.Gln471Arg) rs1201780335 0.00001
NM_025243.4(SLC19A3):c.1439A>G (p.Asp480Gly) rs754918776 0.00001
NM_025243.4(SLC19A3):c.1457A>G (p.Glu486Gly) rs1338153783 0.00001
NM_025243.4(SLC19A3):c.1463G>C (p.Ser488Thr) rs540774490 0.00001
NM_025243.4(SLC19A3):c.151-5T>G rs757762751 0.00001
NM_025243.4(SLC19A3):c.151A>G (p.Ile51Val) rs764398318 0.00001
NM_025243.4(SLC19A3):c.168C>A (p.Phe56Leu) rs769102876 0.00001
NM_025243.4(SLC19A3):c.193G>C (p.Val65Leu) rs1695591331 0.00001
NM_025243.4(SLC19A3):c.232C>T (p.Arg78Cys) rs1329744665 0.00001
NM_025243.4(SLC19A3):c.242C>T (p.Pro81Leu) rs752029795 0.00001
NM_025243.4(SLC19A3):c.26G>A (p.Ser9Asn) rs1373557684 0.00001
NM_025243.4(SLC19A3):c.316A>G (p.Met106Val) rs769548199 0.00001
NM_025243.4(SLC19A3):c.355G>A (p.Ala119Thr) rs367620430 0.00001
NM_025243.4(SLC19A3):c.383A>G (p.Tyr128Cys) rs770685804 0.00001
NM_025243.4(SLC19A3):c.412A>G (p.Arg138Gly) rs201318094 0.00001
NM_025243.4(SLC19A3):c.461G>A (p.Gly154Glu) rs202145913 0.00001
NM_025243.4(SLC19A3):c.484G>A (p.Val162Ile) rs1468039885 0.00001
NM_025243.4(SLC19A3):c.4G>A (p.Asp2Asn) rs747378211 0.00001
NM_025243.4(SLC19A3):c.518A>G (p.Asn173Ser) rs1279277694 0.00001
NM_025243.4(SLC19A3):c.532G>A (p.Ala178Thr) rs766950682 0.00001
NM_025243.4(SLC19A3):c.544G>A (p.Val182Met) rs758707665 0.00001
NM_025243.4(SLC19A3):c.551T>C (p.Phe184Ser) rs1329180844 0.00001
NM_025243.4(SLC19A3):c.587G>A (p.Ser196Asn) rs892057479 0.00001
NM_025243.4(SLC19A3):c.591G>A (p.Met197Ile) rs1035879074 0.00001
NM_025243.4(SLC19A3):c.670G>A (p.Glu224Lys) rs756104687 0.00001
NM_025243.4(SLC19A3):c.697C>G (p.Pro233Ala) rs756864477 0.00001
NM_025243.4(SLC19A3):c.737A>C (p.Lys246Thr) rs548559478 0.00001
NM_025243.4(SLC19A3):c.738G>C (p.Lys246Asn) rs369214674 0.00001
NM_025243.4(SLC19A3):c.835T>C (p.Phe279Leu) rs377709852 0.00001
NM_025243.4(SLC19A3):c.861C>T (p.Phe287=) rs764867524 0.00001
NM_025243.4(SLC19A3):c.862G>A (p.Ala288Thr) rs542566978 0.00001
NM_025243.4(SLC19A3):c.869C>T (p.Ala290Val) rs1289482106 0.00001
NM_025243.4(SLC19A3):c.893A>G (p.Tyr298Cys) rs370104837 0.00001
NM_025243.4(SLC19A3):c.917A>G (p.Lys306Arg) rs1453716517 0.00001
NM_025243.4(SLC19A3):c.955G>A (p.Val319Ile) rs372511010 0.00001
NM_025243.4(SLC19A3):c.998C>T (p.Ala333Val) rs773023992 0.00001
NC_000002.11:g.(?_228552093)_(228567054_?)dup
NC_000002.11:g.(?_228552113)_(228567034_?)dup
NC_000002.11:g.(?_228566865)_(228567034_?)dup
NM_025243.4(SLC19A3):c.*1003G>T rs886055757
NM_025243.4(SLC19A3):c.*1044G>A rs1695015092
NM_025243.4(SLC19A3):c.*1104T>C rs886055754
NM_025243.4(SLC19A3):c.*1207C>T rs1427276202
NM_025243.4(SLC19A3):c.*1463G>A rs555334820
NM_025243.4(SLC19A3):c.*2033A>G rs886055753
NM_025243.4(SLC19A3):c.*33A>G rs886055763
NM_025243.4(SLC19A3):c.*570T>A rs1461906570
NM_025243.4(SLC19A3):c.*713C>T rs1574539152
NM_025243.4(SLC19A3):c.*778G>C rs886055758
NM_025243.4(SLC19A3):c.*924C>T rs957030750
NM_025243.4(SLC19A3):c.1015G>A (p.Val339Ile) rs1316990129
NM_025243.4(SLC19A3):c.1019A>G (p.Asn340Ser) rs1695423219
NM_025243.4(SLC19A3):c.1038G>T (p.Glu346Asp)
NM_025243.4(SLC19A3):c.103C>T (p.Leu35Phe)
NM_025243.4(SLC19A3):c.1049_1050inv (p.Val350Ala)
NM_025243.4(SLC19A3):c.1051G>T (p.Val351Phe) rs1574553914
NM_025243.4(SLC19A3):c.1070C>A (p.Ala357Asp) rs778139709
NM_025243.4(SLC19A3):c.1070C>G (p.Ala357Gly) rs778139709
NM_025243.4(SLC19A3):c.1073G>A (p.Gly358Asp) rs1344961969
NM_025243.4(SLC19A3):c.1089G>A (p.Met363Ile) rs1559247288
NM_025243.4(SLC19A3):c.1090C>T (p.His364Tyr)
NM_025243.4(SLC19A3):c.1103A>G (p.Asn368Ser)
NM_025243.4(SLC19A3):c.110C>T (p.Pro37Leu)
NM_025243.4(SLC19A3):c.1116C>G (p.Cys372Trp) rs201899804
NM_025243.4(SLC19A3):c.1150A>T (p.Met384Leu) rs1473191700
NM_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg) rs563607795
NM_025243.4(SLC19A3):c.1183G>A (p.Ala395Thr) rs747446540
NM_025243.4(SLC19A3):c.1193T>G (p.Leu398Arg) rs1559242521
NM_025243.4(SLC19A3):c.1204C>G (p.Arg402Gly) rs150523975
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys) rs150523975
NM_025243.4(SLC19A3):c.1216G>A (p.Val406Ile) rs1165860726
NM_025243.4(SLC19A3):c.1217T>C (p.Val406Ala) rs1695095166
NM_025243.4(SLC19A3):c.1232C>T (p.Thr411Ile)
NM_025243.4(SLC19A3):c.1245G>T (p.Leu415Phe) rs1213616391
NM_025243.4(SLC19A3):c.1253A>C (p.Gln418Pro)
NM_025243.4(SLC19A3):c.1253A>G (p.Gln418Arg) rs1064795112
NM_025243.4(SLC19A3):c.1256C>A (p.Thr419Asn) rs1559242384
NM_025243.4(SLC19A3):c.1258A>G (p.Ile420Val)
NM_025243.4(SLC19A3):c.1261A>T (p.Met421Leu)
NM_025243.4(SLC19A3):c.1263G>A (p.Met421Ile) rs2106318142
NM_025243.4(SLC19A3):c.1300C>T (p.Pro434Ser) rs760162924
NM_025243.4(SLC19A3):c.1309A>T (p.Ile437Phe) rs1245174999
NM_025243.4(SLC19A3):c.1314+3A>G rs2106318085
NM_025243.4(SLC19A3):c.1328G>T (p.Gly443Val) rs1695064805
NM_025243.4(SLC19A3):c.1349C>G (p.Ala450Gly) rs767080667
NM_025243.4(SLC19A3):c.1352G>A (p.Gly451Glu) rs1559241677
NM_025243.4(SLC19A3):c.1365G>A (p.Met455Ile) rs762173287
NM_025243.4(SLC19A3):c.1370_1371delinsAA (p.Ser457Lys)
NM_025243.4(SLC19A3):c.1374del (p.Met458fs) rs1406230125
NM_025243.4(SLC19A3):c.1378A>C (p.Ile460Leu) rs1574540571
NM_025243.4(SLC19A3):c.1379_1381dup (p.Ile460dup) rs756676536
NM_025243.4(SLC19A3):c.137T>C (p.Leu46Pro)
NM_025243.4(SLC19A3):c.1443_1444del (p.His483fs) rs2106317211
NM_025243.4(SLC19A3):c.1444_1445delinsCT (p.Ser482Leu)
NM_025243.4(SLC19A3):c.1448A>G (p.His483Arg) rs1574540386
NM_025243.4(SLC19A3):c.1451C>T (p.Pro484Leu) rs1574540362
NM_025243.4(SLC19A3):c.1475_1482dup (p.Lys495fs) rs1387251145
NM_025243.4(SLC19A3):c.1476G>C (p.Met492Ile) rs764642918
NM_025243.4(SLC19A3):c.151-17A>G
NM_025243.4(SLC19A3):c.158A>C (p.Asn53Thr) rs2106329724
NM_025243.4(SLC19A3):c.169C>A (p.Pro57Thr) rs1695593996
NM_025243.4(SLC19A3):c.172G>T (p.Val58Phe) rs200412423
NM_025243.4(SLC19A3):c.175T>C (p.Trp59Arg)
NM_025243.4(SLC19A3):c.17C>A (p.Thr6Asn) rs773766196
NM_025243.4(SLC19A3):c.17C>G (p.Thr6Ser)
NM_025243.4(SLC19A3):c.185C>T (p.Ser62Phe) rs1266097365
NM_025243.4(SLC19A3):c.191dup (p.Val65fs)
NM_025243.4(SLC19A3):c.202C>G (p.Leu68Val)
NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn) rs980641322
NM_025243.4(SLC19A3):c.233G>A (p.Arg78His)
NM_025243.4(SLC19A3):c.312G>T (p.Lys104Asn)
NM_025243.4(SLC19A3):c.334T>G (p.Phe112Val)
NM_025243.4(SLC19A3):c.346G>A (p.Val116Ile) rs779294877
NM_025243.4(SLC19A3):c.347T>G (p.Val116Gly)
NM_025243.4(SLC19A3):c.356C>T (p.Ala119Val)
NM_025243.4(SLC19A3):c.360G>A (p.Glu120=) rs566837952
NM_025243.4(SLC19A3):c.368A>G (p.Tyr123Cys)
NM_025243.4(SLC19A3):c.388G>A (p.Val130Met) rs1247579454
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) rs376187918
NM_025243.4(SLC19A3):c.396C>A (p.Ser132Arg) rs1695578483
NM_025243.4(SLC19A3):c.398C>T (p.Pro133Leu)
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_025243.4(SLC19A3):c.402G>C (p.Glu134Asp) rs1695577939
NM_025243.4(SLC19A3):c.403C>A (p.His135Asn) rs2106329285
NM_025243.4(SLC19A3):c.406T>C (p.Tyr136His) rs2106329282
NM_025243.4(SLC19A3):c.421G>T (p.Gly141Cys) rs148144444
NM_025243.4(SLC19A3):c.457G>A (p.Ala153Thr)
NM_025243.4(SLC19A3):c.466G>A (p.Val156Met) rs774845903
NM_025243.4(SLC19A3):c.466G>T (p.Val156Leu) rs774845903
NM_025243.4(SLC19A3):c.491T>C (p.Leu164Pro)
NM_025243.4(SLC19A3):c.493G>C (p.Ala165Pro)
NM_025243.4(SLC19A3):c.499A>G (p.Met167Val)
NM_025243.4(SLC19A3):c.503C>T (p.Ser168Leu)
NM_025243.4(SLC19A3):c.503_505del (p.Ser168del) rs763130915
NM_025243.4(SLC19A3):c.523A>G (p.Ile175Val)
NM_025243.4(SLC19A3):c.52A>G (p.Ile18Val) rs1574565534
NM_025243.4(SLC19A3):c.530T>C (p.Leu177Ser) rs1414881891
NM_025243.4(SLC19A3):c.542C>T (p.Ser181Phe)
NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val) rs199970847
NM_025243.4(SLC19A3):c.553C>A (p.Leu185Ile) rs1695567093
NM_025243.4(SLC19A3):c.558C>G (p.Phe186Leu) rs2106329006
NM_025243.4(SLC19A3):c.574A>G (p.Met192Val)
NM_025243.4(SLC19A3):c.577C>T (p.Pro193Ser) rs1695566021
NM_025243.4(SLC19A3):c.586A>G (p.Ser196Gly) rs1457858397
NM_025243.4(SLC19A3):c.59G>A (p.Cys20Tyr) rs1695727249
NM_025243.4(SLC19A3):c.612C>G (p.Ser204Arg)
NM_025243.4(SLC19A3):c.622A>C (p.Lys208Gln) rs770488061
NM_025243.4(SLC19A3):c.622A>G (p.Lys208Glu) rs770488061
NM_025243.4(SLC19A3):c.636C>A (p.Ser212Arg) rs372767819
NM_025243.4(SLC19A3):c.637G>C (p.Val213Leu) rs534012377
NM_025243.4(SLC19A3):c.644C>T (p.Pro215Leu)
NM_025243.4(SLC19A3):c.662A>C (p.His221Pro) rs863224203
NM_025243.4(SLC19A3):c.712C>T (p.Leu238Phe) rs762519804
NM_025243.4(SLC19A3):c.715A>G (p.Ser239Gly) rs2106328822
NM_025243.4(SLC19A3):c.751A>G (p.Ser251Gly)
NM_025243.4(SLC19A3):c.752G>A (p.Ser251Asn)
NM_025243.4(SLC19A3):c.761C>G (p.Pro254Arg) rs1574558960
NM_025243.4(SLC19A3):c.766A>G (p.Asn256Asp) rs2106328758
NM_025243.4(SLC19A3):c.769G>A (p.Val257Met)
NM_025243.4(SLC19A3):c.779A>G (p.Asp260Gly) rs371155923
NM_025243.4(SLC19A3):c.785T>C (p.Phe262Ser) rs769689872
NM_025243.4(SLC19A3):c.80TGA[1] (p.Met28del)
NM_025243.4(SLC19A3):c.826A>C (p.Lys276Gln)
NM_025243.4(SLC19A3):c.84G>A (p.Met28Ile)
NM_025243.4(SLC19A3):c.859T>C (p.Phe287Leu)
NM_025243.4(SLC19A3):c.862G>C (p.Ala288Pro) rs542566978
NM_025243.4(SLC19A3):c.876T>C (p.Phe292=) rs1695549459
NM_025243.4(SLC19A3):c.881A>G (p.Gln294Arg)
NM_025243.4(SLC19A3):c.88C>A (p.Pro30Thr) rs2106332649
NM_025243.4(SLC19A3):c.892T>G (p.Tyr298Asp) rs2106328613
NM_025243.4(SLC19A3):c.919G>C (p.Ala307Pro)
NM_025243.4(SLC19A3):c.919G>T (p.Ala307Ser)
NM_025243.4(SLC19A3):c.923C>T (p.Pro308Leu) rs2106328576
NM_025243.4(SLC19A3):c.931G>T (p.Asp311Tyr) rs1257911380
NM_025243.4(SLC19A3):c.948T>G (p.Asn316Lys) rs1258302828
NM_025243.4(SLC19A3):c.955G>C (p.Val319Leu)
NM_025243.4(SLC19A3):c.961G>A (p.Ala321Thr) rs2106328516
NM_025243.4(SLC19A3):c.989C>A (p.Ala330Asp) rs1211013989
NM_025243.4(SLC19A3):c.98C>T (p.Pro33Leu) rs2106332628
NM_025243.4(SLC19A3):c.997G>A (p.Ala333Thr) rs2106326082

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