ClinVar Miner

List of variants in gene SLC22A5 reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 147
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr) rs149730454 0.00056
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val) rs28383480 0.00039
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser) rs546442503 0.00039
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro) rs142447950 0.00035
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile) rs142479732 0.00024
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=) rs142264458 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263 0.00016
NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met) rs201262157 0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=) rs150457229 0.00014
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser) rs1321621475 0.00009
NM_003060.4(SLC22A5):c.1568A>G (p.Gln523Arg) rs28383482 0.00008
NM_003060.4(SLC22A5):c.1586G>T (p.Gly529Val) rs201307440 0.00008
NM_003060.4(SLC22A5):c.1284T>A (p.Ala428=) rs780429964 0.00007
NM_003060.4(SLC22A5):c.1373T>C (p.Val458Ala) rs753268767 0.00007
NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn) rs577131769 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003060.4(SLC22A5):c.875A>T (p.Glu292Val) rs371692440 0.00007
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_003060.4(SLC22A5):c.770G>A (p.Arg257Gln) rs148989838 0.00006
NM_003060.4(SLC22A5):c.1022G>A (p.Arg341Gln) rs757199947 0.00005
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886 0.00005
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys) rs755114089 0.00005
NM_003060.4(SLC22A5):c.1007G>A (p.Arg336Gln) rs759529143 0.00004
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=) rs758572818 0.00004
NM_003060.4(SLC22A5):c.1101C>T (p.Asn367=) rs1012487647 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys) rs386134221 0.00004
NM_003060.4(SLC22A5):c.1453G>A (p.Ala485Thr) rs145147616 0.00004
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp) rs386134203 0.00004
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met) rs143013773 0.00004
NM_003060.4(SLC22A5):c.1255C>G (p.Leu419Val) rs780591287 0.00003
NM_003060.4(SLC22A5):c.1271T>C (p.Leu424Ser) rs184618759 0.00003
NM_003060.4(SLC22A5):c.130G>A (p.Ala44Thr) rs1266620798 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.133A>G (p.Thr45Ala) rs376438682 0.00003
NM_003060.4(SLC22A5):c.1539C>T (p.Phe513=) rs370593952 0.00003
NM_003060.4(SLC22A5):c.1552C>G (p.Pro518Ala) rs768925240 0.00003
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr) rs568906114 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_003060.4(SLC22A5):c.530T>C (p.Met177Thr) rs761866020 0.00003
NM_003060.4(SLC22A5):c.592G>A (p.Val198Met) rs757979350 0.00003
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=) rs748677211 0.00003
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln) rs121908891 0.00002
NM_003060.4(SLC22A5):c.1199G>A (p.Arg400His) rs371219688 0.00002
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe) rs778716973 0.00002
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=) rs1226557478 0.00002
NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp) rs753453677 0.00002
NM_003060.4(SLC22A5):c.368T>G (p.Val123Gly) rs748605096 0.00002
NM_003060.4(SLC22A5):c.706T>C (p.Cys236Arg) rs747050292 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003060.4(SLC22A5):c.853A>T (p.Ile285Phe) rs1489260087 0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212 0.00002
NM_003060.4(SLC22A5):c.878C>T (p.Ala293Val) rs893286644 0.00002
NM_003060.4(SLC22A5):c.951G>A (p.Glu317=) rs1431971523 0.00002
NM_003060.4(SLC22A5):c.1021C>T (p.Arg341Trp) rs780990156 0.00001
NM_003060.4(SLC22A5):c.1055T>G (p.Met352Arg) rs1275349783 0.00001
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr) rs369354736 0.00001
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter) rs121908887 0.00001
NM_003060.4(SLC22A5):c.122T>G (p.Phe41Cys) rs1335556134 0.00001
NM_003060.4(SLC22A5):c.1238T>G (p.Val413Gly) rs1224278173 0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs) rs781330134 0.00001
NM_003060.4(SLC22A5):c.1353C>T (p.Ala451=) rs374662740 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.1360T>C (p.Tyr454His) rs766555353 0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys) rs749282641 0.00001
NM_003060.4(SLC22A5):c.1641A>C (p.Glu547Asp) rs1485984674 0.00001
NM_003060.4(SLC22A5):c.217G>C (p.Asp73His) rs778137386 0.00001
NM_003060.4(SLC22A5):c.221G>A (p.Gly74Asp) rs1031179639 0.00001
NM_003060.4(SLC22A5):c.244C>A (p.Arg82Ser) rs955061461 0.00001
NM_003060.4(SLC22A5):c.244C>T (p.Arg82Cys) rs955061461 0.00001
NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln) rs761608940 0.00001
NM_003060.4(SLC22A5):c.26C>T (p.Ala9Val) rs753998904 0.00001
NM_003060.4(SLC22A5):c.298G>C (p.Gly100Arg) rs779263168 0.00001
NM_003060.4(SLC22A5):c.300G>A (p.Gly100=) rs552442289 0.00001
NM_003060.4(SLC22A5):c.318G>A (p.Gly106=) rs1214969369 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 0.00001
NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg) rs398123692 0.00001
NM_003060.4(SLC22A5):c.363G>T (p.Gln121His) rs758991830 0.00001
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys) rs762126547 0.00001
NM_003060.4(SLC22A5):c.382A>G (p.Ile128Val) rs772405276 0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727 0.00001
NM_003060.4(SLC22A5):c.397A>C (p.Asn133His) rs1268928609 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_003060.4(SLC22A5):c.613A>C (p.Met205Leu) rs1322301830 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003060.4(SLC22A5):c.652+1G>A rs386134200 0.00001
NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn) rs774619135 0.00001
NM_003060.4(SLC22A5):c.785C>T (p.Ala262Val) rs752989096 0.00001
NM_003060.4(SLC22A5):c.850C>T (p.Leu284Phe) rs150278881 0.00001
NM_003060.4(SLC22A5):c.911A>G (p.Asn304Ser) rs746559733 0.00001
NM_003060.4(SLC22A5):c.944C>T (p.Pro315Leu) rs200697217 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003060.4(SLC22A5):c.961C>G (p.Leu321Val) rs761264590 0.00001
NM_003060.4(SLC22A5):c.1036A>G (p.Met346Val) rs745453534
NM_003060.4(SLC22A5):c.1043T>A (p.Ile348Lys) rs150544263
NM_003060.4(SLC22A5):c.1046T>C (p.Met349Thr) rs1280789093
NM_003060.4(SLC22A5):c.1060A>G (p.Ile354Val) rs1166753949
NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=) rs139508856
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val) rs573330330
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.1437C>T (p.Tyr479=) rs761305616
NM_003060.4(SLC22A5):c.1451G>A (p.Gly484Asp) rs28383480
NM_003060.4(SLC22A5):c.1596C>A (p.His532Gln) rs1752802142
NM_003060.4(SLC22A5):c.1660A>G (p.Ser554Gly) rs1561577867
NM_003060.4(SLC22A5):c.215G>C (p.Arg72Pro) rs1177265994
NM_003060.4(SLC22A5):c.232C>T (p.Pro78Ser) rs1485828747
NM_003060.4(SLC22A5):c.233C>T (p.Pro78Leu) rs1751846688
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_003060.4(SLC22A5):c.265A>G (p.Ile89Val) rs765849408
NM_003060.4(SLC22A5):c.325G>C (p.Glu109Gln) rs1254200528
NM_003060.4(SLC22A5):c.327G>C (p.Glu109Asp) rs760680664
NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter) rs886041277
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg) rs756863825
NM_003060.4(SLC22A5):c.451G>T (p.Val151Leu) rs386134193
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.470C>A (p.Ser157Tyr) rs759925126
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe) rs759925126
NM_003060.4(SLC22A5):c.4C>G (p.Arg2Gly) rs762330138
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.518T>C (p.Leu173Pro) rs1752441594
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu) rs1437174685
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.692C>G (p.Ser231Cys) rs386134206
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu) rs538372785
NM_003060.4(SLC22A5):c.825-52G>A rs1194929977
NM_003060.4(SLC22A5):c.861G>C (p.Gln287His) rs1182361371
NM_003060.4(SLC22A5):c.893G>A (p.Arg298His) rs747835354
NM_003060.4(SLC22A5):c.893G>T (p.Arg298Leu) rs747835354
NM_003060.4(SLC22A5):c.964A>G (p.Ser322Gly) rs1561574065
NM_003060.4(SLC22A5):c.976C>G (p.Gln326Glu) rs1047810495

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.