ClinVar Miner

List of variants in gene SLC19A3 studied for not provided

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Gene type:
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Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.151-311T>A rs13400826 0.96045
NM_025243.3(SLC19A3):c.-90C>T rs4972919 0.61232
NM_025243.4(SLC19A3):c.979+213G>A rs7602410 0.61040
NM_025243.4(SLC19A3):c.-2-224G>T rs68136760 0.36655
NM_025243.4(SLC19A3):c.1314+173G>A rs13025803 0.36290
NM_025243.4(SLC19A3):c.-2-62G>A rs6713116 0.18515
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036 0.09001
NM_025243.4(SLC19A3):c.979+182A>G rs112266944 0.08911
NM_025243.4(SLC19A3):c.*203C>T rs80307329 0.07960
NM_025243.4(SLC19A3):c.1314+121C>A rs74971746 0.07959
NM_025243.4(SLC19A3):c.1172+196A>T rs79988924 0.04585
NM_025243.4(SLC19A3):c.980-235G>A rs78560438 0.04581
NM_025243.4(SLC19A3):c.1172+209A>G rs77029550 0.04578
NM_025243.4(SLC19A3):c.979+93G>A rs80269916 0.04498
NM_025243.4(SLC19A3):c.979+42G>C rs79612836 0.04495
NM_025243.4(SLC19A3):c.150+198A>G rs76278804 0.04493
NM_025243.4(SLC19A3):c.1172+273A>G rs6721696 0.04198
NM_025243.4(SLC19A3):c.1173-47C>T rs73997321 0.04170
NM_025243.4(SLC19A3):c.979+105G>A rs62191374 0.04164
NM_025243.4(SLC19A3):c.150+203A>C rs74387373 0.03958
NM_025243.4(SLC19A3):c.980-205G>A rs75081601 0.03368
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_025243.4(SLC19A3):c.1315-123C>T rs76072698 0.03025
NM_025243.4(SLC19A3):c.980-246G>A rs6745885 0.02080
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01664
NM_025243.4(SLC19A3):c.-3+142T>G rs114871078 0.01331
NM_025243.4(SLC19A3):c.1172+227A>G rs79299809 0.01209
NM_025243.4(SLC19A3):c.*103C>A rs116590386 0.00909
NM_025243.4(SLC19A3):c.756G>A (p.Leu252=) rs12185721 0.00883
NM_025243.4(SLC19A3):c.150+233G>A rs77628307 0.00820
NM_025243.4(SLC19A3):c.1315-64G>A rs185401751 0.00670
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_025243.4(SLC19A3):c.-2-3996A>T rs192316285 0.00510
NM_025243.4(SLC19A3):c.979+292G>A rs146526874 0.00310
NM_025243.4(SLC19A3):c.546G>A (p.Val182=) rs143188189 0.00263
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) rs149806390 0.00097
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) rs145288025 0.00073
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930 0.00067
NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val) rs117864472 0.00062
NM_025243.4(SLC19A3):c.987G>A (p.Val329=) rs146636922 0.00061
NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His) rs144817990 0.00059
NM_025243.4(SLC19A3):c.18T>A (p.Thr6=) rs141093593 0.00055
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) rs199558186 0.00041
NM_025243.4(SLC19A3):c.436G>A (p.Val146Ile) rs147502239 0.00036
NM_025243.4(SLC19A3):c.980-46G>T rs183152800 0.00036
NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val) rs142166552 0.00034
NM_025243.4(SLC19A3):c.562C>G (p.Leu188Val) rs146949876 0.00026
NM_025243.4(SLC19A3):c.1370G>A (p.Ser457Asn) rs138839321 0.00022
NM_025243.4(SLC19A3):c.387C>T (p.Ser129=) rs143579160 0.00022
NM_025243.4(SLC19A3):c.106A>G (p.Ile36Val) rs372637185 0.00019
NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser) rs116533505 0.00019
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val) rs747823282 0.00016
NM_025243.4(SLC19A3):c.99A>G (p.Pro33=) rs17853011 0.00014
NM_025243.4(SLC19A3):c.865A>G (p.Thr289Ala) rs746272588 0.00012
NM_025243.4(SLC19A3):c.1339G>A (p.Ala447Thr) rs754794859 0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) rs780569649 0.00009
NM_025243.4(SLC19A3):c.373G>A (p.Ala125Thr) rs996377339 0.00008
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_025243.4(SLC19A3):c.914A>G (p.Tyr305Cys) rs189540672 0.00007
NM_025243.4(SLC19A3):c.1343T>C (p.Val448Ala) rs201544540 0.00006
NM_025243.4(SLC19A3):c.335T>C (p.Phe112Ser) rs200971390 0.00006
NM_025243.4(SLC19A3):c.980G>A (p.Gly327Glu) rs1248803297 0.00005
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_025243.4(SLC19A3):c.1024G>A (p.Asp342Asn) rs376305641 0.00003
NM_025243.4(SLC19A3):c.500T>A (p.Met167Lys) rs376414109 0.00003
NM_025243.4(SLC19A3):c.624G>T (p.Lys208Asn) rs201274864 0.00003
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) rs373198092 0.00003
NM_025243.4(SLC19A3):c.217C>T (p.Leu73Phe) rs373943165 0.00002
NM_025243.4(SLC19A3):c.488C>T (p.Ser163Phe) rs898880170 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs) rs775835429 0.00002
NM_025243.4(SLC19A3):c.1104T>C (p.Asn368=) rs767338710 0.00001
NM_025243.4(SLC19A3):c.1118A>G (p.Tyr373Cys) rs1131691470 0.00001
NM_025243.4(SLC19A3):c.1172+1G>A rs1219632810 0.00001
NM_025243.4(SLC19A3):c.1215G>T (p.Leu405Phe) rs755120020 0.00001
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu) rs368364131 0.00001
NM_025243.4(SLC19A3):c.1314+1G>A rs141957107 0.00001
NM_025243.4(SLC19A3):c.1463G>C (p.Ser488Thr) rs540774490 0.00001
NM_025243.4(SLC19A3):c.151A>G (p.Ile51Val) rs764398318 0.00001
NM_025243.4(SLC19A3):c.225T>C (p.Asp75=) rs886044447 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.461G>A (p.Gly154Glu) rs202145913 0.00001
NM_025243.4(SLC19A3):c.532G>A (p.Ala178Thr) rs766950682 0.00001
NM_025243.4(SLC19A3):c.611G>A (p.Ser204Asn) rs773705000 0.00001
NM_025243.4(SLC19A3):c.697C>G (p.Pro233Ala) rs756864477 0.00001
NM_025243.4(SLC19A3):c.955G>A (p.Val319Ile) rs372511010 0.00001
GRCh37/hg19 2q36.3(chr2:228534400-228589902)x1
GRCh37/hg19 2q36.3(chr2:228534817-228656069)x3
GRCh37/hg19 2q36.3(chr2:228562089-228649448)x1
GRCh37/hg19 2q36.3(chr2:228568652-228612016)x1
GRCh37/hg19 2q36.3(chr2:228568988-228610384)x1
NM_025243.4(SLC19A3):c.*8G>A rs188532608
NM_025243.4(SLC19A3):c.*8G>T rs188532608
NM_025243.4(SLC19A3):c.-2-76del rs71039629
NM_025243.4(SLC19A3):c.113A>G (p.Tyr38Cys) rs766975844
NM_025243.4(SLC19A3):c.1148A>G (p.Tyr383Cys) rs1057524556
NM_025243.4(SLC19A3):c.1172+273_1172+277del rs140315029
NM_025243.4(SLC19A3):c.1173-4A>T rs367737262
NM_025243.4(SLC19A3):c.1173-7A>G rs1286201155
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.1228A>C (p.Asn410His) rs1085307963
NM_025243.4(SLC19A3):c.123A>T (p.Gly41=)
NM_025243.4(SLC19A3):c.1253A>G (p.Gln418Arg) rs1064795112
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) rs121917884
NM_025243.4(SLC19A3):c.1332C>G (p.Ser444Arg) rs863224204
NM_025243.4(SLC19A3):c.1378A>G (p.Ile460Val) rs1574540571
NM_025243.4(SLC19A3):c.141C>T (p.Thr47=) rs145710386
NM_025243.4(SLC19A3):c.148G>T (p.Glu50Ter) rs1131691902
NM_025243.4(SLC19A3):c.151-36G>T rs111818722
NM_025243.4(SLC19A3):c.171del (p.Val58fs) rs2106329702
NM_025243.4(SLC19A3):c.189C>A (p.Tyr63Ter) rs1559250774
NM_025243.4(SLC19A3):c.198del (p.Leu67fs)
NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter) rs713993048
NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn) rs980641322
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg) rs1695586409
NM_025243.4(SLC19A3):c.307G>A (p.Val103Met)
NM_025243.4(SLC19A3):c.328G>A (p.Glu110Lys)
NM_025243.4(SLC19A3):c.355G>T (p.Ala119Ser) rs367620430
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) rs376187918
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_025243.4(SLC19A3):c.39T>G (p.Ile13Met) rs2106332726
NM_025243.4(SLC19A3):c.464C>T (p.Ser155Leu) rs1131691615
NM_025243.4(SLC19A3):c.466G>A (p.Val156Met) rs774845903
NM_025243.4(SLC19A3):c.472G>A (p.Ala158Thr) rs2106329144
NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs) rs1271884981
NM_025243.4(SLC19A3):c.488C>A (p.Ser163Tyr) rs898880170
NM_025243.4(SLC19A3):c.503_505del (p.Ser168del) rs763130915
NM_025243.4(SLC19A3):c.555T>C (p.Leu185=) rs2106329019
NM_025243.4(SLC19A3):c.58T>A (p.Cys20Ser)
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_025243.4(SLC19A3):c.660T>A (p.Thr220=) rs777660984
NM_025243.4(SLC19A3):c.718A>C (p.Thr240Pro)
NM_025243.4(SLC19A3):c.74dup (p.Ser26fs) rs786205213
NM_025243.4(SLC19A3):c.862G>C (p.Ala288Pro) rs542566978
NM_025243.4(SLC19A3):c.894T>G (p.Tyr298Ter) rs1474448985
NM_025243.4(SLC19A3):c.895_925del (p.Val299fs) rs1574558558
NM_025243.4(SLC19A3):c.896T>C (p.Val299Ala) rs1559249124
NM_025243.4(SLC19A3):c.923C>T (p.Pro308Leu) rs2106328576
NM_025243.4(SLC19A3):c.979+279_979+282del rs113074927
NM_025243.4(SLC19A3):c.980-10T>C rs750918156
NM_025243.4(SLC19A3):c.980-40dup rs79287293
NM_025243.4(SLC19A3):c.980-4del rs11334205

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