ClinVar Miner

List of variants in gene SLC19A2 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 292
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HGVS dbSNP gnomAD frequency
NM_006996.3(SLC19A2):c.*60G>A rs2678166 0.98575
NM_006996.3(SLC19A2):c.807+210T>C rs1983546 0.46706
NM_006996.3(SLC19A2):c.*967A>G rs16862199 0.24080
NM_006996.3(SLC19A2):c.-4C>T rs2072757 0.16749
NM_006996.3(SLC19A2):c.205-284T>G rs12239720 0.13831
NM_006996.3(SLC19A2):c.1031-106T>C rs3737683 0.05996
NM_006996.3(SLC19A2):c.*1814G>A rs12091844 0.05951
NM_006996.3(SLC19A2):c.1365+196G>T rs3765227 0.03838
NM_006996.3(SLC19A2):c.1366-184C>T rs73051105 0.03228
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_006996.3(SLC19A2):c.205-13C>T rs78337980 0.01195
NM_006996.3(SLC19A2):c.*1421A>G rs74121673 0.00885
NM_006996.3(SLC19A2):c.808-85G>C rs150177200 0.00773
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_006996.3(SLC19A2):c.808-235T>G rs180861664 0.00743
NM_006996.3(SLC19A2):c.1366-55A>G rs113759111 0.00607
NM_006996.3(SLC19A2):c.-114C>T rs145285893 0.00519
NM_006996.3(SLC19A2):c.1030+115G>A rs182263645 0.00378
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640 0.00374
NM_006996.3(SLC19A2):c.1366-125G>C rs538851000 0.00333
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_006996.3(SLC19A2):c.1030+19T>C rs200952135 0.00160
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656 0.00123
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_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser) rs150049339 0.00041
NM_006996.3(SLC19A2):c.1278A>G (p.Val426=) rs200813632 0.00024
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser) rs149595229 0.00017
NM_006996.3(SLC19A2):c.1380C>T (p.Ala460=) rs151078749 0.00014
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_006996.3(SLC19A2):c.1398C>T (p.Ile466=) rs370262388 0.00011
NM_006996.3(SLC19A2):c.1139T>C (p.Met380Thr) rs375188929 0.00009
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) rs769397647 0.00009
NM_006996.3(SLC19A2):c.588C>T (p.Thr196=) rs146835764 0.00009
NM_006996.3(SLC19A2):c.179C>G (p.Pro60Arg) rs373405573 0.00008
NM_006996.3(SLC19A2):c.633A>G (p.Pro211=) rs373838257 0.00008
NM_006996.3(SLC19A2):c.771C>T (p.Ile257=) rs752667059 0.00008
NM_006996.3(SLC19A2):c.1063A>C (p.Lys355Gln) rs200879349 0.00006
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) rs201489069 0.00006
NM_006996.3(SLC19A2):c.1171G>A (p.Ala391Thr) rs756721026 0.00005
NM_006996.3(SLC19A2):c.204+17C>T rs909260756 0.00005
NM_006996.3(SLC19A2):c.1213A>G (p.Thr405Ala) rs576208768 0.00004
NM_006996.3(SLC19A2):c.1307C>T (p.Thr436Met) rs746730218 0.00004
NM_006996.3(SLC19A2):c.1291G>T (p.Ala431Ser) rs746375841 0.00003
NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr) rs374046494 0.00003
NM_006996.3(SLC19A2):c.1450A>T (p.Lys484Ter) rs768199279 0.00003
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe) rs759321228 0.00003
NM_006996.3(SLC19A2):c.399C>T (p.Ile133=) rs368349356 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_006996.3(SLC19A2):c.1245C>T (p.Leu415=) rs758431347 0.00002
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter) rs752104654 0.00002
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) rs199921604 0.00001
NM_006996.3(SLC19A2):c.1008G>A (p.Val336=) rs772129644 0.00001
NM_006996.3(SLC19A2):c.1293C>T (p.Ala431=) rs772649755 0.00001
NM_006996.3(SLC19A2):c.201G>A (p.Arg67=) rs1302425866 0.00001
NM_006996.3(SLC19A2):c.432T>C (p.Tyr144=) rs777760889 0.00001
NM_006996.3(SLC19A2):c.500T>C (p.Val167Ala) rs1242339764 0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595 0.00001
NM_006996.3(SLC19A2):c.550G>A (p.Gly184Ser) rs565922278 0.00001
NM_006996.3(SLC19A2):c.808-20T>C rs200308986 0.00001
NM_006996.3(SLC19A2):c.835T>C (p.Leu279=) rs988192130 0.00001
NM_006996.3(SLC19A2):c.843A>G (p.Val281=) rs1009996634 0.00001
NM_006996.3(SLC19A2):c.909C>G (p.Ala303=) rs1351692845 0.00001
NC_000001.10:g.(?_169435087)_(169439444_?)del
NC_000001.10:g.(?_169435087)_(169455004_?)del
NC_000001.10:g.(?_169439182)_(169447015_?)del
NC_000001.10:g.(?_169446833)_(169454047_?)del
NC_000001.10:g.(?_169454781)_(169455004_?)del
NM_006996.3(SLC19A2):c.*1524C>T rs79478264
NM_006996.3(SLC19A2):c.1005C>T (p.Gly335=)
NM_006996.3(SLC19A2):c.1014C>T (p.Ala338=) rs143780369
NM_006996.3(SLC19A2):c.1030+17A>G
NM_006996.3(SLC19A2):c.1030+8A>G
NM_006996.3(SLC19A2):c.1031-10_1031-7del
NM_006996.3(SLC19A2):c.1031-17T>G
NM_006996.3(SLC19A2):c.1031-19T>C
NM_006996.3(SLC19A2):c.1031-20T>G
NM_006996.3(SLC19A2):c.1031-21dup rs760530947
NM_006996.3(SLC19A2):c.1031-5T>C
NM_006996.3(SLC19A2):c.1031-6C>T rs1176877573
NM_006996.3(SLC19A2):c.1033G>T (p.Ala345Ser)
NM_006996.3(SLC19A2):c.1041T>C (p.Ala347=)
NM_006996.3(SLC19A2):c.1061T>C (p.Ile354Thr) rs2101773816
NM_006996.3(SLC19A2):c.1061_1063del (p.Ile354del)
NM_006996.3(SLC19A2):c.1087G>A (p.Glu363Lys)
NM_006996.3(SLC19A2):c.1113C>G (p.Leu371=) rs2101773748
NM_006996.3(SLC19A2):c.1125T>G (p.Ala375=)
NM_006996.3(SLC19A2):c.1131G>A (p.Val377=)
NM_006996.3(SLC19A2):c.1134T>C (p.Tyr378=)
NM_006996.3(SLC19A2):c.1145C>T (p.Thr382Ile)
NM_006996.3(SLC19A2):c.1155C>T (p.Asn385=)
NM_006996.3(SLC19A2):c.1160G>A (p.Trp387Ter)
NM_006996.3(SLC19A2):c.1166G>T (p.Cys389Phe)
NM_006996.3(SLC19A2):c.1168del (p.Tyr390fs)
NM_006996.3(SLC19A2):c.1171dup (p.Ala391fs)
NM_006996.3(SLC19A2):c.1176C>T (p.Ser392=)
NM_006996.3(SLC19A2):c.1178A>G (p.Tyr393Cys)
NM_006996.3(SLC19A2):c.1189A>T (p.Arg397Ter)
NM_006996.3(SLC19A2):c.1200C>T (p.Tyr400=)
NM_006996.3(SLC19A2):c.1209C>T (p.Leu403=)
NM_006996.3(SLC19A2):c.1214C>G (p.Thr405Arg)
NM_006996.3(SLC19A2):c.1223+10_1223+19del
NM_006996.3(SLC19A2):c.1223+13del rs745341264
NM_006996.3(SLC19A2):c.1223+14C>G
NM_006996.3(SLC19A2):c.1223+16C>T
NM_006996.3(SLC19A2):c.1223+17A>G
NM_006996.3(SLC19A2):c.1223+1G>A
NM_006996.3(SLC19A2):c.1223+1G>T
NM_006996.3(SLC19A2):c.1223+20G>C
NM_006996.3(SLC19A2):c.1223C>T (p.Thr408Ile)
NM_006996.3(SLC19A2):c.1224-106_1224-104del rs71944465
NM_006996.3(SLC19A2):c.1224-13del
NM_006996.3(SLC19A2):c.1224-15_1224-14del
NM_006996.3(SLC19A2):c.1224-18C>T
NM_006996.3(SLC19A2):c.1224-18_1224-17del
NM_006996.3(SLC19A2):c.1224-2A>T
NM_006996.3(SLC19A2):c.1224-4dup
NM_006996.3(SLC19A2):c.1224-7_1224-4del
NM_006996.3(SLC19A2):c.1224-8T>C
NM_006996.3(SLC19A2):c.1245C>A (p.Leu415=)
NM_006996.3(SLC19A2):c.1256G>A (p.Arg419His)
NM_006996.3(SLC19A2):c.1263C>A (p.Ala421=)
NM_006996.3(SLC19A2):c.1263C>T (p.Ala421=)
NM_006996.3(SLC19A2):c.1275T>C (p.Gly425=)
NM_006996.3(SLC19A2):c.1294C>T (p.Leu432=)
NM_006996.3(SLC19A2):c.1299A>T (p.Ala433=)
NM_006996.3(SLC19A2):c.1308G>A (p.Thr436=)
NM_006996.3(SLC19A2):c.1308G>T (p.Thr436=)
NM_006996.3(SLC19A2):c.1311G>A (p.Leu437=)
NM_006996.3(SLC19A2):c.1351_1360del (p.Glu451fs)
NM_006996.3(SLC19A2):c.1359C>T (p.Thr453=)
NM_006996.3(SLC19A2):c.1365+10C>T
NM_006996.3(SLC19A2):c.1365+15T>G
NM_006996.3(SLC19A2):c.1365+18G>T
NM_006996.3(SLC19A2):c.1365+20A>G
NM_006996.3(SLC19A2):c.1365+7T>C
NM_006996.3(SLC19A2):c.1366-15T>C
NM_006996.3(SLC19A2):c.1366-4C>T
NM_006996.3(SLC19A2):c.1366-4del
NM_006996.3(SLC19A2):c.1366-6T>G
NM_006996.3(SLC19A2):c.1366-8C>T
NM_006996.3(SLC19A2):c.1366-9C>G
NM_006996.3(SLC19A2):c.1370del (p.Phe456_Leu457insTer)
NM_006996.3(SLC19A2):c.1395C>T (p.Leu465=)
NM_006996.3(SLC19A2):c.1399G>A (p.Ala467Thr)
NM_006996.3(SLC19A2):c.1407T>C (p.Val469=)
NM_006996.3(SLC19A2):c.1410C>T (p.Phe470=)
NM_006996.3(SLC19A2):c.1428C>T (p.Val476=)
NM_006996.3(SLC19A2):c.1432G>A (p.Val478Ile) rs751968628
NM_006996.3(SLC19A2):c.1446T>C (p.Cys482=)
NM_006996.3(SLC19A2):c.1453C>T (p.Leu485=)
NM_006996.3(SLC19A2):c.1455G>A (p.Leu485=)
NM_006996.3(SLC19A2):c.1464A>G (p.Pro488=)
NM_006996.3(SLC19A2):c.1467A>G (p.Gln489=)
NM_006996.3(SLC19A2):c.1476T>C (p.Ser492=)
NM_006996.3(SLC19A2):c.1476T>G (p.Ser492=)
NM_006996.3(SLC19A2):c.1485C>T (p.Thr495=)
NM_006996.3(SLC19A2):c.1491A>G (p.Ser497=)
NM_006996.3(SLC19A2):c.191T>C (p.Leu64Pro)
NM_006996.3(SLC19A2):c.195C>G (p.Thr65=)
NM_006996.3(SLC19A2):c.196G>T (p.Glu66Ter)
NM_006996.3(SLC19A2):c.200G>A (p.Arg67Lys)
NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr) rs369937650
NM_006996.3(SLC19A2):c.204+11C>T
NM_006996.3(SLC19A2):c.204+13G>A rs575467657
NM_006996.3(SLC19A2):c.204+16G>A
NM_006996.3(SLC19A2):c.204+18G>T
NM_006996.3(SLC19A2):c.204+20G>A
NM_006996.3(SLC19A2):c.204+4CG[4]
NM_006996.3(SLC19A2):c.205-13dup
NM_006996.3(SLC19A2):c.205-14del rs755410874
NM_006996.3(SLC19A2):c.205-15T>C
NM_006996.3(SLC19A2):c.205-18T>C
NM_006996.3(SLC19A2):c.205-18T>G
NM_006996.3(SLC19A2):c.205-19T>G
NM_006996.3(SLC19A2):c.205-20T>G
NM_006996.3(SLC19A2):c.205-20_205-14del
NM_006996.3(SLC19A2):c.205-25dup rs755410874
NM_006996.3(SLC19A2):c.205-26_205-20del
NM_006996.3(SLC19A2):c.205-296G>T rs146142463
NM_006996.3(SLC19A2):c.205-9T>A
NM_006996.3(SLC19A2):c.205-9_205-6del
NM_006996.3(SLC19A2):c.234T>C (p.Thr78=)
NM_006996.3(SLC19A2):c.239C>G (p.Ser80Cys)
NM_006996.3(SLC19A2):c.240T>C (p.Ser80=)
NM_006996.3(SLC19A2):c.243C>T (p.Tyr81=)
NM_006996.3(SLC19A2):c.246G>A (p.Leu82=)
NM_006996.3(SLC19A2):c.253C>T (p.Leu85=)
NM_006996.3(SLC19A2):c.255G>A (p.Leu85=)
NM_006996.3(SLC19A2):c.258T>C (p.Phe86=)
NM_006996.3(SLC19A2):c.262G>A (p.Val88Met)
NM_006996.3(SLC19A2):c.267C>T (p.Phe89=)
NM_006996.3(SLC19A2):c.270T>G (p.Leu90=) rs1571538047
NM_006996.3(SLC19A2):c.272C>A (p.Ala91Asp)
NM_006996.3(SLC19A2):c.286C>T (p.Arg96Cys)
NM_006996.3(SLC19A2):c.288T>C (p.Arg96=)
NM_006996.3(SLC19A2):c.291T>C (p.Tyr97=)
NM_006996.3(SLC19A2):c.309G>T (p.Leu103=)
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
NM_006996.3(SLC19A2):c.316C>A (p.Leu106Ile) rs1658355721
NM_006996.3(SLC19A2):c.358G>T (p.Gly120Ter)
NM_006996.3(SLC19A2):c.366G>A (p.Leu122=)
NM_006996.3(SLC19A2):c.369C>A (p.Ala123=)
NM_006996.3(SLC19A2):c.382G>T (p.Glu128Ter)
NM_006996.3(SLC19A2):c.391del (p.Tyr131fs)
NM_006996.3(SLC19A2):c.400G>A (p.Ala134Thr)
NM_006996.3(SLC19A2):c.405A>G (p.Thr135=)
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) rs761957186
NM_006996.3(SLC19A2):c.429_432del (p.Tyr144fs)
NM_006996.3(SLC19A2):c.438C>T (p.Tyr146=)
NM_006996.3(SLC19A2):c.447G>T (p.Val149=)
NM_006996.3(SLC19A2):c.457A>C (p.Met153Leu)
NM_006996.3(SLC19A2):c.462C>T (p.Tyr154=)
NM_006996.3(SLC19A2):c.473C>G (p.Thr158Arg)
NM_006996.3(SLC19A2):c.479A>G (p.Tyr160Cys)
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) rs74315373
NM_006996.3(SLC19A2):c.497T>A (p.Leu166Ter)
NM_006996.3(SLC19A2):c.510A>C (p.Thr170=)
NM_006996.3(SLC19A2):c.528G>A (p.Gly176=)
NM_006996.3(SLC19A2):c.528G>C (p.Gly176=)
NM_006996.3(SLC19A2):c.528G>T (p.Gly176=)
NM_006996.3(SLC19A2):c.540C>T (p.Val180=)
NM_006996.3(SLC19A2):c.543A>T (p.Ser181=)
NM_006996.3(SLC19A2):c.552C>T (p.Gly184=)
NM_006996.3(SLC19A2):c.555G>A (p.Trp185Ter)
NM_006996.3(SLC19A2):c.556_557insTTGGT (p.Ser186fs)
NM_006996.3(SLC19A2):c.558G>A (p.Ser186=)
NM_006996.3(SLC19A2):c.567C>T (p.Ser189=)
NM_006996.3(SLC19A2):c.579C>T (p.Ile193=)
NM_006996.3(SLC19A2):c.583C>T (p.Leu195Phe)
NM_006996.3(SLC19A2):c.590G>C (p.Cys197Ser)
NM_006996.3(SLC19A2):c.597del (p.Val200fs)
NM_006996.3(SLC19A2):c.602C>T (p.Ala201Val)
NM_006996.3(SLC19A2):c.609T>C (p.Ala203=)
NM_006996.3(SLC19A2):c.620_624dup (p.Pro209fs) rs2101781113
NM_006996.3(SLC19A2):c.631C>T (p.Pro211Ser)
NM_006996.3(SLC19A2):c.648C>T (p.Phe216=)
NM_006996.3(SLC19A2):c.655C>T (p.His219Tyr)
NM_006996.3(SLC19A2):c.669C>T (p.Thr223=)
NM_006996.3(SLC19A2):c.673C>T (p.Gln225Ter)
NM_006996.3(SLC19A2):c.678_679del (p.Arg226fs)
NM_006996.3(SLC19A2):c.696A>G (p.Val232=)
NM_006996.3(SLC19A2):c.725del (p.Pro242fs) rs1571537544
NM_006996.3(SLC19A2):c.726A>G (p.Pro242=)
NM_006996.3(SLC19A2):c.749G>A (p.Trp250Ter)
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) rs74315374
NM_006996.3(SLC19A2):c.750G>C (p.Trp250Cys)
NM_006996.3(SLC19A2):c.753G>A (p.Glu251=)
NM_006996.3(SLC19A2):c.759dup (p.Glu254Ter)
NM_006996.3(SLC19A2):c.806C>T (p.Pro269Leu)
NM_006996.3(SLC19A2):c.807+137TTCA[5] rs111564572
NM_006996.3(SLC19A2):c.807+13T>G
NM_006996.3(SLC19A2):c.807+17A>C
NM_006996.3(SLC19A2):c.807+18T>A
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_006996.3(SLC19A2):c.807+81del rs564882105
NM_006996.3(SLC19A2):c.808-10T>G
NM_006996.3(SLC19A2):c.808-2A>G
NM_006996.3(SLC19A2):c.808-6A>C
NM_006996.3(SLC19A2):c.808-6A>G
NM_006996.3(SLC19A2):c.808-79_808-68del rs373828727
NM_006996.3(SLC19A2):c.812C>A (p.Pro271His)
NM_006996.3(SLC19A2):c.823C>T (p.Arg275Cys)
NM_006996.3(SLC19A2):c.825T>C (p.Arg275=)
NM_006996.3(SLC19A2):c.831T>G (p.Leu277=)
NM_006996.3(SLC19A2):c.834A>G (p.Val278=)
NM_006996.3(SLC19A2):c.852T>C (p.Asn284=)
NM_006996.3(SLC19A2):c.861G>T (p.Leu287=)
NM_006996.3(SLC19A2):c.870C>T (p.Tyr290=) rs1553212054
NM_006996.3(SLC19A2):c.872C>A (p.Ser291Tyr) rs1658133770
NM_006996.3(SLC19A2):c.891C>T (p.Cys297=)
NM_006996.3(SLC19A2):c.897T>C (p.Ser299=)
NM_006996.3(SLC19A2):c.902G>A (p.Trp301Ter)
NM_006996.3(SLC19A2):c.903G>A (p.Trp301Ter)
NM_006996.3(SLC19A2):c.912C>G (p.Leu304=)
NM_006996.3(SLC19A2):c.915T>C (p.Ser305=)
NM_006996.3(SLC19A2):c.920G>C (p.Cys307Ser) rs2101774849
NM_006996.3(SLC19A2):c.921T>C (p.Cys307=)
NM_006996.3(SLC19A2):c.924C>T (p.Gly308=)
NM_006996.3(SLC19A2):c.947C>T (p.Thr316Ile)
NM_006996.3(SLC19A2):c.952G>A (p.Gly318Ser)
NM_006996.3(SLC19A2):c.954C>A (p.Gly318=)
NM_006996.3(SLC19A2):c.963G>A (p.Glu321=)
NM_006996.3(SLC19A2):c.975T>G (p.Pro325=)
NM_006996.3(SLC19A2):c.977C>A (p.Ser326Tyr)
NM_006996.3(SLC19A2):c.979C>T (p.Arg327Cys)
NM_006996.3(SLC19A2):c.981C>A (p.Arg327=)
NM_006996.3(SLC19A2):c.987T>C (p.Ala329=)
NM_006996.3(SLC19A2):c.999del (p.Asn333fs)

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