ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 522
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HGVS dbSNP gnomAD frequency
NM_006996.2(SLC19A2):c.-196C>A rs72542444 0.00366
NM_001126121.2(SLC25A19):c.*384C>T rs192494814 0.00290
NM_025243.4(SLC19A3):c.*2139G>A rs554398899 0.00218
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_006996.3(SLC19A2):c.*1246T>G rs181914254 0.00135
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656 0.00123
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_006996.3(SLC19A2):c.1014C>G (p.Ala338=) rs143780369 0.00086
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) rs61734338 0.00083
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_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys) rs138376525 0.00061
NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His) rs144817990 0.00059
NM_001126121.2(SLC25A19):c.155G>A (p.Arg52His) rs138954932 0.00044
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) rs199558186 0.00041
NM_006996.3(SLC19A2):c.*51C>G rs376279404 0.00040
NM_006996.3(SLC19A2):c.*1186A>G rs922589020 0.00031
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_001126121.2(SLC25A19):c.622C>T (p.Pro208Ser) rs200276538 0.00023
NM_025243.4(SLC19A3):c.382T>C (p.Tyr128His) rs1423798302 0.00022
NM_006996.3(SLC19A2):c.*638G>A rs757466309 0.00018
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser) rs149595229 0.00017
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=) rs148474667 0.00016
NM_025243.4(SLC19A3):c.*575G>A rs528139519 0.00016
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val) rs747823282 0.00016
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) rs770374931 0.00014
NM_006996.3(SLC19A2):c.319A>G (p.Ser107Gly) rs113927216 0.00013
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_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr) rs144393784 0.00011
NM_025243.4(SLC19A3):c.*1517T>C rs575955380 0.00011
NM_001126121.2(SLC25A19):c.324C>G (p.His108Gln) rs146573563 0.00010
NM_006996.3(SLC19A2):c.*1928T>C rs776987873 0.00010
NM_022445.4(TPK1):c.152G>A (p.Arg51His) rs202038293 0.00010
NM_025243.4(SLC19A3):c.*1818T>A rs189430957 0.00010
NM_025243.4(SLC19A3):c.680G>A (p.Gly227Asp) rs139464512 0.00010
NM_001126121.2(SLC25A19):c.635A>G (p.Lys212Arg) rs970877497 0.00009
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) rs769397647 0.00009
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_006996.3(SLC19A2):c.179C>G (p.Pro60Arg) rs373405573 0.00008
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_001126121.2(SLC25A19):c.135T>A (p.Leu45=) rs373190423 0.00006
NM_001126121.2(SLC25A19):c.73T>G (p.Ser25Ala) rs777474053 0.00006
NM_001126121.2(SLC25A19):c.779G>A (p.Arg260Gln) rs200977389 0.00006
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) rs201489069 0.00006
NM_022445.4(TPK1):c.664G>A (p.Asp222Asn) rs368458768 0.00006
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_001126121.2(SLC25A19):c.93G>A (p.Ala31=) rs143765189 0.00005
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_006996.3(SLC19A2):c.10C>T (p.Pro4Ser) rs886045530 0.00004
NM_006996.3(SLC19A2):c.1307C>T (p.Thr436Met) rs746730218 0.00004
NM_022445.4(TPK1):c.164T>C (p.Ile55Thr) rs373745325 0.00004
NM_022445.4(TPK1):c.230C>T (p.Pro77Leu) rs145863885 0.00004
NM_022445.4(TPK1):c.259-3T>C rs763105827 0.00004
NM_022445.4(TPK1):c.392G>A (p.Arg131His) rs147602742 0.00004
NM_022445.4(TPK1):c.491T>C (p.Leu164Pro) rs374946048 0.00004
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_001126121.2(SLC25A19):c.20A>G (p.Lys7Arg) rs762770947 0.00003
NM_006996.3(SLC19A2):c.*31A>G rs777625943 0.00003
NM_006996.3(SLC19A2):c.*658T>C rs1038511649 0.00003
NM_006996.3(SLC19A2):c.-12C>G rs772886076 0.00003
NM_006996.3(SLC19A2):c.-2G>A rs886045531 0.00003
NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr) rs374046494 0.00003
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe) rs759321228 0.00003
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys) rs548333207 0.00003
NM_006996.3(SLC19A2):c.793C>T (p.Pro265Ser) rs17847481 0.00003
NM_022445.4(TPK1):c.10G>A (p.Ala4Thr) rs766958215 0.00003
NM_022445.4(TPK1):c.127G>A (p.Ala43Thr) rs756505847 0.00003
NM_022445.4(TPK1):c.169G>A (p.Glu57Lys) rs200717734 0.00003
NM_022445.4(TPK1):c.365T>C (p.Ile122Thr) rs547285921 0.00003
NM_022445.4(TPK1):c.371C>T (p.Thr124Ile) rs754068899 0.00003
NM_022445.4(TPK1):c.677T>A (p.Val226Asp) rs550639617 0.00003
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_006996.3(SLC19A2):c.30G>A (p.Arg10=) rs928593954 0.00002
NM_006996.3(SLC19A2):c.42G>T (p.Ala14=) rs945252214 0.00002
NM_022445.4(TPK1):c.136G>A (p.Asp46Asn) rs551699564 0.00002
NM_022445.4(TPK1):c.434C>T (p.Ala145Val) rs576168961 0.00002
NM_022445.4(TPK1):c.49T>A (p.Leu17Met) rs1164108275 0.00002
NM_022445.4(TPK1):c.535G>C (p.Glu179Gln) rs767663147 0.00002
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_001126121.2(SLC25A19):c.*292A>G rs1004218259 0.00001
NM_001126121.2(SLC25A19):c.476G>A (p.Arg159His) rs778166940 0.00001
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113 0.00001
NM_006996.3(SLC19A2):c.*1927C>T rs1657926116 0.00001
NM_006996.3(SLC19A2):c.*627C>T rs886045527 0.00001
NM_006996.3(SLC19A2):c.1008G>A (p.Val336=) rs772129644 0.00001
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val) rs756487822 0.00001
NM_006996.3(SLC19A2):c.1149G>C (p.Val383=) rs747484241 0.00001
NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val) rs1490832268 0.00001
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) rs121908540 0.00001
NM_006996.3(SLC19A2):c.807+6C>G rs201700843 0.00001
NM_006996.3(SLC19A2):c.909C>G (p.Ala303=) rs1351692845 0.00001
NM_022445.4(TPK1):c.13T>C (p.Phe5Leu) rs1360207392 0.00001
NM_022445.4(TPK1):c.174A>T (p.Gly58=) rs1049396049 0.00001
NM_022445.4(TPK1):c.206A>G (p.Asn69Ser) rs773722179 0.00001
NM_022445.4(TPK1):c.305C>G (p.Thr102Ser) rs778868865 0.00001
NM_022445.4(TPK1):c.335T>C (p.Ile112Thr) rs1588880738 0.00001
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe) rs760881424 0.00001
NM_022445.4(TPK1):c.40A>G (p.Thr14Ala) rs1425413327 0.00001
NM_022445.4(TPK1):c.43+6G>T rs1167506497 0.00001
NM_022445.4(TPK1):c.479C>T (p.Ser160Leu) rs758949475 0.00001
NM_022445.4(TPK1):c.482T>A (p.Leu161Gln) rs755359509 0.00001
NM_022445.4(TPK1):c.53A>G (p.Lys18Arg) rs769583875 0.00001
NM_022445.4(TPK1):c.546G>C (p.Trp182Cys) rs751636131 0.00001
NM_022445.4(TPK1):c.559C>T (p.Pro187Ser) rs1441218983 0.00001
NM_022445.4(TPK1):c.566G>A (p.Gly189Glu) rs2063720083 0.00001
NM_022445.4(TPK1):c.620A>T (p.Asp207Val) rs747262651 0.00001
NM_022445.4(TPK1):c.706C>G (p.Leu236Val) rs1431932282 0.00001
NM_022445.4(TPK1):c.92A>C (p.Tyr31Ser) rs531486319 0.00001
NM_022445.4(TPK1):c.97C>T (p.Arg33Cys) rs368467309 0.00001
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
NC_000007.13:g.(?_144094333)_(144150776_?)dup
NC_000007.13:g.(?_144094333)_(144463064_?)dup
NC_000007.13:g.(?_144150638)_(144150776_?)del
NC_000007.13:g.(?_144150638)_(144532695_?)dup
NC_000007.13:g.(?_144245564)_(144245715_?)del
NC_000007.13:g.(?_144245564)_(144380091_?)del
NC_000007.13:g.(?_144320239)_(144320374_?)del
NC_000007.13:g.(?_144462953)_(144463064_?)dup
NC_000007.13:g.(?_144462953)_(144532695_?)dup
NC_000007.13:g.(?_144532633)_(144532695_?)dup
NC_000007.14:g.(?_144453525)_(144453683_?)del
NC_000007.14:g.(?_144453525)_(144453683_?)dup
NC_000007.14:g.(?_144453525)_(144548622_?)dup
NC_000007.14:g.(?_144453525)_(144835622_?)dup
NC_000007.14:g.(?_144765860)_(144765971_?)del
NM_001126121.2(SLC25A19):c.*113G>C rs780528476
NM_001126121.2(SLC25A19):c.*408C>T rs2077766048
NM_001126121.2(SLC25A19):c.-170G>A rs931515557
NM_001126121.2(SLC25A19):c.246C>T (p.His82=) rs535476833
NM_001126121.2(SLC25A19):c.748G>A (p.Glu250Lys)
NM_001126121.2(SLC25A19):c.930C>A (p.Phe310Leu) rs886053391
NM_006996.3(SLC19A2):c.*1349T>C rs1657943320
NM_006996.3(SLC19A2):c.*1493G>A rs886045524
NM_006996.3(SLC19A2):c.*1523A>G rs886045523
NM_006996.3(SLC19A2):c.*1539CTGT[1] rs886045522
NM_006996.3(SLC19A2):c.*1543C>G rs1657937297
NM_006996.3(SLC19A2):c.*1588T>G rs886045521
NM_006996.3(SLC19A2):c.*174C>G rs1657969443
NM_006996.3(SLC19A2):c.*1901AATA[1] rs745730912
NM_006996.3(SLC19A2):c.*255A>T rs562829928
NM_006996.3(SLC19A2):c.*390T>G rs886045528
NM_006996.3(SLC19A2):c.*440T>C rs1657963505
NM_006996.3(SLC19A2):c.*712dup rs886045526
NM_006996.3(SLC19A2):c.*898_*899del rs886045525
NM_006996.3(SLC19A2):c.-103G>A rs886045532
NM_006996.3(SLC19A2):c.-163G>T rs886045533
NM_006996.3(SLC19A2):c.1006G>T (p.Val336Leu)
NM_006996.3(SLC19A2):c.1030+15A>G
NM_006996.3(SLC19A2):c.1030G>T (p.Gly344Cys)
NM_006996.3(SLC19A2):c.1052T>C (p.Val351Ala)
NM_006996.3(SLC19A2):c.1061_1063del (p.Ile354del)
NM_006996.3(SLC19A2):c.1085G>A (p.Gly362Glu)
NM_006996.3(SLC19A2):c.1129G>A (p.Val377Met)
NM_006996.3(SLC19A2):c.1199A>G (p.Tyr400Cys)
NM_006996.3(SLC19A2):c.1217T>C (p.Ile406Thr)
NM_006996.3(SLC19A2):c.1224-4dup
NM_006996.3(SLC19A2):c.1249A>C (p.Met417Leu)
NM_006996.3(SLC19A2):c.1289T>C (p.Ile430Thr)
NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe)
NM_006996.3(SLC19A2):c.1325T>C (p.Val442Ala)
NM_006996.3(SLC19A2):c.1325T>G (p.Val442Gly)
NM_006996.3(SLC19A2):c.1327G>A (p.Val443Ile) rs754002628
NM_006996.3(SLC19A2):c.1357A>T (p.Thr453Ser)
NM_006996.3(SLC19A2):c.1371G>T (p.Leu457Phe)
NM_006996.3(SLC19A2):c.1372A>T (p.Ile458Phe)
NM_006996.3(SLC19A2):c.1399G>A (p.Ala467Thr)
NM_006996.3(SLC19A2):c.1435dup (p.Met479fs)
NM_006996.3(SLC19A2):c.1439A>G (p.Lys480Arg)
NM_006996.3(SLC19A2):c.1444T>C (p.Cys482Arg)
NM_006996.3(SLC19A2):c.1452G>C (p.Lys484Asn)
NM_006996.3(SLC19A2):c.1481dup (p.Thr495fs)
NM_006996.3(SLC19A2):c.1492T>A (p.Ter498Lys)
NM_006996.3(SLC19A2):c.161C>T (p.Thr54Ile)
NM_006996.3(SLC19A2):c.166T>A (p.Tyr56Asn)
NM_006996.3(SLC19A2):c.180G>T (p.Pro60=) rs1198335067
NM_006996.3(SLC19A2):c.200G>A (p.Arg67Lys)
NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr) rs369937650
NM_006996.3(SLC19A2):c.205-25_205-24dup rs755410874
NM_006996.3(SLC19A2):c.205-25dup rs755410874
NM_006996.3(SLC19A2):c.20T>A (p.Val7Glu)
NM_006996.3(SLC19A2):c.238T>G (p.Ser80Ala)
NM_006996.3(SLC19A2):c.25C>G (p.Arg9Gly)
NM_006996.3(SLC19A2):c.25CGG[1] (p.Arg10del)
NM_006996.3(SLC19A2):c.286C>T (p.Arg96Cys)
NM_006996.3(SLC19A2):c.287G>A (p.Arg96His) rs558617037
NM_006996.3(SLC19A2):c.30GGC[4] (p.Ala15_Ala16del)
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)
NM_006996.3(SLC19A2):c.326T>C (p.Ile109Thr)
NM_006996.3(SLC19A2):c.328G>A (p.Val110Ile)
NM_006996.3(SLC19A2):c.352G>A (p.Ala118Thr)
NM_006996.3(SLC19A2):c.384A>T (p.Glu128Asp)
NM_006996.3(SLC19A2):c.387T>G (p.Phe129Leu)
NM_006996.3(SLC19A2):c.400G>A (p.Ala134Thr)
NM_006996.3(SLC19A2):c.479A>G (p.Tyr160Cys)
NM_006996.3(SLC19A2):c.511G>A (p.Val171Met)
NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys) rs758126745
NM_006996.3(SLC19A2):c.551G>A (p.Gly184Asp)
NM_006996.3(SLC19A2):c.55C>T (p.Leu19Phe)
NM_006996.3(SLC19A2):c.569T>C (p.Leu190Pro)
NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe)
NM_006996.3(SLC19A2):c.583C>T (p.Leu195Phe)
NM_006996.3(SLC19A2):c.602C>G (p.Ala201Gly)
NM_006996.3(SLC19A2):c.614C>G (p.Ala205Gly)
NM_006996.3(SLC19A2):c.646T>G (p.Phe216Val)
NM_006996.3(SLC19A2):c.70C>G (p.Arg24Gly)
NM_006996.3(SLC19A2):c.753G>A (p.Glu251=)
NM_006996.3(SLC19A2):c.757A>G (p.Ile253Val)
NM_006996.3(SLC19A2):c.782T>C (p.Met261Thr)
NM_006996.3(SLC19A2):c.807G>A (p.Pro269=)
NM_006996.3(SLC19A2):c.808-1G>A rs1557889336
NM_006996.3(SLC19A2):c.808-3T>C
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro) rs886045529
NM_006996.3(SLC19A2):c.872C>A (p.Ser291Tyr) rs1658133770
NM_006996.3(SLC19A2):c.933A>G (p.Gln311=)
NM_006996.3(SLC19A2):c.947C>T (p.Thr316Ile)
NM_006996.3(SLC19A2):c.979C>T (p.Arg327Cys)
NM_006996.3(SLC19A2):c.98C>A (p.Pro33Gln) rs867455033
NM_006996.3(SLC19A2):c.991A>C (p.Ile331Leu)
NM_006996.3(SLC19A2):c.991A>T (p.Ile331Phe)
NM_006996.3(SLC19A2):c.995A>G (p.Tyr332Cys)
NM_006996.3(SLC19A2):c.998A>G (p.Asn333Ser)
NM_022445.4(TPK1):c.10G>T (p.Ala4Ser) rs766958215
NM_022445.4(TPK1):c.115+6C>G
NM_022445.4(TPK1):c.137A>T (p.Asp46Val)
NM_022445.4(TPK1):c.151C>T (p.Arg51Cys) rs761924102
NM_022445.4(TPK1):c.152G>T (p.Arg51Leu)
NM_022445.4(TPK1):c.157T>C (p.Tyr53His)
NM_022445.4(TPK1):c.160_162del (p.Asp54del) rs2082412299
NM_022445.4(TPK1):c.164T>A (p.Ile55Asn) rs373745325
NM_022445.4(TPK1):c.17C>T (p.Thr6Ile) rs1796682677
NM_022445.4(TPK1):c.202A>G (p.Ile68Val) rs2078415890
NM_022445.4(TPK1):c.20C>T (p.Pro7Leu)
NM_022445.4(TPK1):c.223A>G (p.Ile75Val) rs960990842
NM_022445.4(TPK1):c.22T>A (p.Leu8Met) rs763434100
NM_022445.4(TPK1):c.239G>A (p.Arg80Lys) rs749455380
NM_022445.4(TPK1):c.250G>A (p.Ala84Thr)
NM_022445.4(TPK1):c.259G>A (p.Gly87Arg) rs1174570973
NM_022445.4(TPK1):c.263G>A (p.Cys88Tyr)
NM_022445.4(TPK1):c.277A>C (p.Thr93Pro)
NM_022445.4(TPK1):c.293A>C (p.His98Pro)
NM_022445.4(TPK1):c.334A>G (p.Ile112Val) rs2151156040
NM_022445.4(TPK1):c.337G>A (p.Glu113Lys) rs1563779902
NM_022445.4(TPK1):c.354G>C (p.Lys118Asn) rs1045769598
NM_022445.4(TPK1):c.385G>A (p.Ala129Thr) rs2150829067
NM_022445.4(TPK1):c.394T>C (p.Phe132Leu) rs2150828894
NM_022445.4(TPK1):c.425T>C (p.Leu142Ser) rs1265314976
NM_022445.4(TPK1):c.428T>A (p.Phe143Tyr)
NM_022445.4(TPK1):c.43+20G>A
NM_022445.4(TPK1):c.44-3T>C rs2092460944
NM_022445.4(TPK1):c.441C>A (p.His147Gln)
NM_022445.4(TPK1):c.442A>G (p.Ile148Val) rs1325977316
NM_022445.4(TPK1):c.444C>G (p.Ile148Met)
NM_022445.4(TPK1):c.463A>G (p.Ile155Val) rs2150827870
NM_022445.4(TPK1):c.484A>T (p.Ile162Phe) rs2150827494
NM_022445.4(TPK1):c.501+5G>A rs2150827132
NM_022445.4(TPK1):c.502-3C>T rs2129165008
NM_022445.4(TPK1):c.512G>C (p.Arg171Thr) rs2063726493
NM_022445.4(TPK1):c.518A>C (p.His173Pro) rs1285011402
NM_022445.4(TPK1):c.530G>T (p.Gly177Val) rs1588141821
NM_022445.4(TPK1):c.532A>T (p.Met178Leu) rs2063724454
NM_022445.4(TPK1):c.538G>A (p.Gly180Ser)
NM_022445.4(TPK1):c.562G>C (p.Val188Leu) rs1385750838
NM_022445.4(TPK1):c.562G>T (p.Val188Phe)
NM_022445.4(TPK1):c.56A>G (p.Tyr19Cys) rs745721039
NM_022445.4(TPK1):c.575G>A (p.Cys192Tyr)
NM_022445.4(TPK1):c.593C>T (p.Thr198Ile)
NM_022445.4(TPK1):c.614C>T (p.Thr205Ile)
NM_022445.4(TPK1):c.61C>T (p.Leu21Phe)
NM_022445.4(TPK1):c.662A>G (p.Tyr221Cys) rs750322523
NM_022445.4(TPK1):c.662ACG[3] (p.Asp222dup) rs2054442370
NM_022445.4(TPK1):c.667G>A (p.Gly223Arg) rs568804217
NM_022445.4(TPK1):c.676G>A (p.Val226Ile) rs2128872988
NM_022445.4(TPK1):c.700C>T (p.Pro234Ser) rs748307256
NM_022445.4(TPK1):c.701C>A (p.Pro234Gln) rs749295013
NM_022445.4(TPK1):c.704T>C (p.Leu235Pro) rs2054434904
NM_022445.4(TPK1):c.715A>G (p.Met239Val)
NM_022445.4(TPK1):c.74A>G (p.Asn25Ser) rs2092459668
NM_022445.4(TPK1):c.79C>T (p.Pro27Ser)
NM_022445.4(TPK1):c.86A>G (p.Asp29Gly) rs2092459385
NM_022445.4(TPK1):c.92A>G (p.Tyr31Cys) rs531486319
NM_022445.4(TPK1):c.98G>C (p.Arg33Pro)
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.1151T>G (p.Met384Arg)
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.153A>G (p.Ile51Met)
NM_025243.4(SLC19A3):c.157A>G (p.Asn53Asp)
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.364_378del (p.Ala122_Tyr126del)
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.646G>T (p.Val216Leu)
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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