ClinVar Miner

List of variants in gene SLC22A5 reported as uncertain significance for Renal carnitine transport defect

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 438
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.*959A>C rs14701 0.00632
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His) rs144020613 0.00362
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_003060.4(SLC22A5):c.*1062G>A rs138469584 0.00325
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=) rs149521997 0.00079
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.1579G>C (p.Val527Leu) rs145792427 0.00063
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
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.364G>T (p.Asp122Tyr) rs201082652 0.00043
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.*637T>C rs1050858831 0.00034
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450 0.00029
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile) rs142479732 0.00024
NM_003060.4(SLC22A5):c.-26G>A rs369724970 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_003060.4(SLC22A5):c.1053-3C>T rs149201271 0.00021
NM_003060.4(SLC22A5):c.*1244C>T rs184494469 0.00018
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=) rs142264458 0.00018
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=) rs146185976 0.00017
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263 0.00016
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala) rs544332057 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.952-14T>C rs373018486 0.00011
NM_003060.4(SLC22A5):c.*1214G>A rs529124788 0.00010
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.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.770G>A (p.Arg257Gln) rs148989838 0.00006
NM_003060.4(SLC22A5):c.1022G>A (p.Arg341Gln) rs757199947 0.00005
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys) rs755114089 0.00005
NM_003060.4(SLC22A5):c.*74G>A rs565654675 0.00004
NM_003060.4(SLC22A5):c.-30G>C rs758034537 0.00004
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.1113C>T (p.Asp371=) rs200637508 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.1547C>G (p.Pro516Arg) rs563142575 0.00004
NM_003060.4(SLC22A5):c.1631A>T (p.Asp544Val) rs764068991 0.00004
NM_003060.4(SLC22A5):c.498-3C>T rs1483610184 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.*5G>A rs554373076 0.00003
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp) rs200125400 0.00003
NM_003060.4(SLC22A5):c.1255C>G (p.Leu419Val) rs780591287 0.00003
NM_003060.4(SLC22A5):c.1267+5G>A rs367638878 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.1552C>G (p.Pro518Ala) rs768925240 0.00003
NM_003060.4(SLC22A5):c.1587-11T>G rs772775759 0.00003
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr) rs568906114 0.00003
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met) rs386134193 0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 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.1199G>A (p.Arg400His) rs371219688 0.00002
NM_003060.4(SLC22A5):c.1258G>C (p.Val420Leu) rs535222699 0.00002
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe) rs778716973 0.00002
NM_003060.4(SLC22A5):c.1533G>C (p.Glu511Asp) rs748111365 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.522C>T (p.Phe174=) rs145350949 0.00002
NM_003060.4(SLC22A5):c.706T>C (p.Cys236Arg) rs747050292 0.00002
NM_003060.4(SLC22A5):c.853A>T (p.Ile285Phe) rs1489260087 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.*322C>A rs1220869401 0.00001
NM_003060.4(SLC22A5):c.*484G>A rs760545883 0.00001
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.1073A>C (p.Tyr358Ser) rs1266953756 0.00001
NM_003060.4(SLC22A5):c.1116C>G (p.Ile372Met) rs753461448 0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val) rs746187344 0.00001
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr) rs369354736 0.00001
NM_003060.4(SLC22A5):c.118G>A (p.Val40Met) rs148657753 0.00001
NM_003060.4(SLC22A5):c.1198C>T (p.Arg400Cys) rs1249681027 0.00001
NM_003060.4(SLC22A5):c.1219C>T (p.Leu407Phe) rs754913053 0.00001
NM_003060.4(SLC22A5):c.1228G>A (p.Gly410Ser) rs1331373451 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.1251G>A (p.Met417Ile) rs756473868 0.00001
NM_003060.4(SLC22A5):c.1262C>T (p.Pro421Leu) rs1436718402 0.00001
NM_003060.4(SLC22A5):c.1310T>C (p.Phe437Ser) rs1335183542 0.00001
NM_003060.4(SLC22A5):c.1342G>A (p.Val448Met) rs386134219 0.00001
NM_003060.4(SLC22A5):c.1360T>C (p.Tyr454His) rs766555353 0.00001
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg) rs1408166345 0.00001
NM_003060.4(SLC22A5):c.1394T>G (p.Val465Gly) rs917270911 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003060.4(SLC22A5):c.1483A>G (p.Met495Val) rs1023956374 0.00001
NM_003060.4(SLC22A5):c.1510A>G (p.Ile504Val) rs1417574754 0.00001
NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser) rs1157198543 0.00001
NM_003060.4(SLC22A5):c.1540G>A (p.Gly514Ser) rs551153027 0.00001
NM_003060.4(SLC22A5):c.1545C>G (p.Thr515=) rs1256876367 0.00001
NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu) rs758158685 0.00001
NM_003060.4(SLC22A5):c.163G>A (p.Ala55Thr) rs1356287812 0.00001
NM_003060.4(SLC22A5):c.1641A>C (p.Glu547Asp) rs1485984674 0.00001
NM_003060.4(SLC22A5):c.1651A>G (p.Ile551Val) rs745329092 0.00001
NM_003060.4(SLC22A5):c.171C>G (p.Asn57Lys) rs1354240252 0.00001
NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile) rs1169005119 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.224G>C (p.Arg75Pro) rs757711838 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.28T>C (p.Phe10Leu) rs759420042 0.00001
NM_003060.4(SLC22A5):c.298G>C (p.Gly100Arg) rs779263168 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.391G>A (p.Glu131Lys) rs1321705165 0.00001
NM_003060.4(SLC22A5):c.394-16T>A rs775097754 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.42G>C (p.Trp14Cys) rs796052036 0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro) rs386134197 0.00001
NM_003060.4(SLC22A5):c.569C>T (p.Ser190Leu) rs766106506 0.00001
NM_003060.4(SLC22A5):c.583A>G (p.Met195Val) rs1194966941 0.00001
NM_003060.4(SLC22A5):c.613A>C (p.Met205Leu) rs1322301830 0.00001
NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr) rs749602236 0.00001
NM_003060.4(SLC22A5):c.652+3A>G rs774833531 0.00001
NM_003060.4(SLC22A5):c.677T>A (p.Val226Asp) rs373199019 0.00001
NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn) rs774619135 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 0.00001
NM_003060.4(SLC22A5):c.785C>T (p.Ala262Val) rs752989096 0.00001
NM_003060.4(SLC22A5):c.825G>T (p.Trp275Cys) rs386134207 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.926C>T (p.Pro309Leu) rs1252043783 0.00001
NM_003060.4(SLC22A5):c.932C>G (p.Thr311Ser) rs770408585 0.00001
NM_003060.4(SLC22A5):c.944C>T (p.Pro315Leu) rs200697217 0.00001
NM_003060.4(SLC22A5):c.949G>A (p.Glu317Lys) rs774792831 0.00001
NM_003060.4(SLC22A5):c.961C>G (p.Leu321Val) rs761264590 0.00001
NC_000005.9:g.(?_131726362)_(131729964_?)dup
NM_003060.4(SLC22A5):c.*1020C>G rs886059915
NM_003060.4(SLC22A5):c.*17G>A rs773583158
NM_003060.4(SLC22A5):c.*195G>T rs886059910
NM_003060.4(SLC22A5):c.*196A>T rs557809028
NM_003060.4(SLC22A5):c.*417T>A rs886059911
NM_003060.4(SLC22A5):c.*424T>C rs886059912
NM_003060.4(SLC22A5):c.*654G>C rs886059913
NM_003060.4(SLC22A5):c.*678G>T rs148673968
NM_003060.4(SLC22A5):c.*705A>G rs974114194
NM_003060.4(SLC22A5):c.*956_*957insTA rs746348980
NM_003060.4(SLC22A5):c.*957A>T rs200950736
NM_003060.4(SLC22A5):c.*960dup rs869272980
NM_003060.4(SLC22A5):c.-25C>T rs886059907
NM_003060.4(SLC22A5):c.1000C>G (p.Leu334Val)
NM_003060.4(SLC22A5):c.1006C>A (p.Arg336=)
NM_003060.4(SLC22A5):c.1016A>G (p.Asn339Ser)
NM_003060.4(SLC22A5):c.1018A>T (p.Ile340Phe)
NM_003060.4(SLC22A5):c.1035C>G (p.Ile345Met)
NM_003060.4(SLC22A5):c.1036A>G (p.Met346Val) rs745453534
NM_003060.4(SLC22A5):c.1037T>C (p.Met346Thr)
NM_003060.4(SLC22A5):c.1043T>A (p.Ile348Lys) rs150544263
NM_003060.4(SLC22A5):c.1044A>G (p.Ile348Met)
NM_003060.4(SLC22A5):c.1046T>C (p.Met349Thr) rs1280789093
NM_003060.4(SLC22A5):c.104C>G (p.Thr35Ser)
NM_003060.4(SLC22A5):c.104C>T (p.Thr35Ile) rs759704527
NM_003060.4(SLC22A5):c.1052+3A>G rs2126788177
NM_003060.4(SLC22A5):c.1052+5G>A rs927950152
NM_003060.4(SLC22A5):c.1053-11C>G
NM_003060.4(SLC22A5):c.1055T>C (p.Met352Thr)
NM_003060.4(SLC22A5):c.1060A>G (p.Ile354Val) rs1166753949
NM_003060.4(SLC22A5):c.1062A>G (p.Ile354Met) rs2126789583
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
NM_003060.4(SLC22A5):c.1076T>C (p.Phe359Ser)
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup) rs896634334
NM_003060.4(SLC22A5):c.1080_1081delinsTA (p.Leu361Ile) rs1580892228
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003060.4(SLC22A5):c.1088T>A (p.Leu363His) rs386134214
NM_003060.4(SLC22A5):c.1096C>T (p.Pro366Ser) rs767240544
NM_003060.4(SLC22A5):c.1099A>G (p.Asn367Asp)
NM_003060.4(SLC22A5):c.109C>G (p.Leu37Val) rs796052037
NM_003060.4(SLC22A5):c.1106A>C (p.His369Pro)
NM_003060.4(SLC22A5):c.1109G>A (p.Gly370Glu) rs2126789674
NM_003060.4(SLC22A5):c.1120G>A (p.Val374Met) rs886059909
NM_003060.4(SLC22A5):c.112T>A (p.Ser38Thr)
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
NM_003060.4(SLC22A5):c.1140G>T (p.Ala380=)
NM_003060.4(SLC22A5):c.1150G>A (p.Val384Ile)
NM_003060.4(SLC22A5):c.1168G>A (p.Ala390Thr)
NM_003060.4(SLC22A5):c.1169C>G (p.Ala390Gly) rs1752671467
NM_003060.4(SLC22A5):c.119T>A (p.Val40Glu) rs1561560593
NM_003060.4(SLC22A5):c.1205C>G (p.Ser402Cys)
NM_003060.4(SLC22A5):c.1207A>G (p.Met403Val) rs2126789830
NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val) rs573330330
NM_003060.4(SLC22A5):c.1232G>T (p.Gly411Val)
NM_003060.4(SLC22A5):c.1234A>C (p.Ser412Arg) rs1057518364
NM_003060.4(SLC22A5):c.1235G>A (p.Ser412Asn) rs2126789869
NM_003060.4(SLC22A5):c.1238T>C (p.Val413Ala)
NM_003060.4(SLC22A5):c.123C>G (p.Phe41Leu) rs2126764960
NM_003060.4(SLC22A5):c.1267+3_1267+24del rs1554088199
NM_003060.4(SLC22A5):c.1286C>T (p.Thr429Ile)
NM_003060.4(SLC22A5):c.1294G>C (p.Val432Leu)
NM_003060.4(SLC22A5):c.1295T>C (p.Val432Ala) rs1172191328
NM_003060.4(SLC22A5):c.1303G>A (p.Gly435Ser)
NM_003060.4(SLC22A5):c.131C>A (p.Ala44Glu)
NM_003060.4(SLC22A5):c.131C>G (p.Ala44Gly)
NM_003060.4(SLC22A5):c.1324G>A (p.Ala442Thr)
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1327T>C (p.Phe443Leu) rs1580894264
NM_003060.4(SLC22A5):c.1331C>G (p.Ser444Cys)
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys) rs1183338050
NM_003060.4(SLC22A5):c.134C>A (p.Thr45Asn)
NM_003060.4(SLC22A5):c.1361A>T (p.Tyr454Phe)
NM_003060.4(SLC22A5):c.1363C>A (p.Pro455Thr) rs1326829327
NM_003060.4(SLC22A5):c.1380C>A (p.Asn460Lys)
NM_003060.4(SLC22A5):c.1387G>T (p.Val463Leu) rs2126791543
NM_003060.4(SLC22A5):c.1390G>A (p.Gly464Arg)
NM_003060.4(SLC22A5):c.1391G>A (p.Gly464Glu) rs1752740146
NM_003060.4(SLC22A5):c.1397G>C (p.Ser466Thr) rs2126791559
NM_003060.4(SLC22A5):c.140A>T (p.Glu47Val)
NM_003060.4(SLC22A5):c.1430C>T (p.Ser477Phe)
NM_003060.4(SLC22A5):c.1436A>G (p.Tyr479Cys) rs977041272
NM_003060.4(SLC22A5):c.1440C>G (p.Phe480Leu) rs150457229
NM_003060.4(SLC22A5):c.1441G>T (p.Val481Phe) rs11568513
NM_003060.4(SLC22A5):c.1450+5G>A rs1752743445
NM_003060.4(SLC22A5):c.1451-3T>A rs760324689
NM_003060.4(SLC22A5):c.1451G>A (p.Gly484Asp) rs28383480
NM_003060.4(SLC22A5):c.1457A>G (p.Tyr486Cys)
NM_003060.4(SLC22A5):c.1459G>A (p.Asp487Asn) rs1752782020
NM_003060.4(SLC22A5):c.1462C>G (p.Arg488Gly)
NM_003060.4(SLC22A5):c.1475A>G (p.Tyr492Cys) rs1413377442
NM_003060.4(SLC22A5):c.1477A>C (p.Ile493Leu) rs2126792661
NM_003060.4(SLC22A5):c.1492C>A (p.Leu498Met) rs183379391
NM_003060.4(SLC22A5):c.1505C>T (p.Thr502Ile)
NM_003060.4(SLC22A5):c.150C>G (p.Cys50Trp)
NM_003060.4(SLC22A5):c.1516A>T (p.Thr506Ser) rs1752784173
NM_003060.4(SLC22A5):c.1517C>T (p.Thr506Ile) rs753704081
NM_003060.4(SLC22A5):c.1519T>G (p.Leu507Val)
NM_003060.4(SLC22A5):c.1522T>C (p.Phe508Leu)
NM_003060.4(SLC22A5):c.152G>A (p.Arg51Gln)
NM_003060.4(SLC22A5):c.1534A>G (p.Ser512Gly)
NM_003060.4(SLC22A5):c.1537T>A (p.Phe513Ile) rs1752785458
NM_003060.4(SLC22A5):c.1541G>A (p.Gly514Asp)
NM_003060.4(SLC22A5):c.1547C>T (p.Pro516Leu) rs563142575
NM_003060.4(SLC22A5):c.1549C>T (p.Leu517Phe)
NM_003060.4(SLC22A5):c.1552C>T (p.Pro518Ser) rs768925240
NM_003060.4(SLC22A5):c.1562T>C (p.Ile521Thr) rs1752787157
NM_003060.4(SLC22A5):c.1582A>C (p.Lys528Gln)
NM_003060.4(SLC22A5):c.1582A>T (p.Lys528Ter)
NM_003060.4(SLC22A5):c.1586+6A>C
NM_003060.4(SLC22A5):c.1586G>C (p.Gly529Ala) rs201307440
NM_003060.4(SLC22A5):c.1588A>G (p.Met530Val)
NM_003060.4(SLC22A5):c.158C>G (p.Pro53Arg)
NM_003060.4(SLC22A5):c.158C>T (p.Pro53Leu)
NM_003060.4(SLC22A5):c.1594C>T (p.His532Tyr) rs1752801992
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs) rs796052040
NM_003060.4(SLC22A5):c.1596C>A (p.His532Gln) rs1752802142
NM_003060.4(SLC22A5):c.1596_1597del (p.His532fs)
NM_003060.4(SLC22A5):c.160G>A (p.Asp54Asn)
NM_003060.4(SLC22A5):c.1631A>G (p.Asp544Gly)
NM_003060.4(SLC22A5):c.1636C>T (p.Gln546Ter) rs1752804300
NM_003060.4(SLC22A5):c.1642A>G (p.Arg548Gly)
NM_003060.4(SLC22A5):c.1660A>G (p.Ser554Gly) rs1561577867
NM_003060.4(SLC22A5):c.1663A>G (p.Thr555Ala)
NM_003060.4(SLC22A5):c.1674A>C (p.Ter558Tyr) rs1554088647
NM_003060.4(SLC22A5):c.167C>T (p.Ala56Val) rs2126765106
NM_003060.4(SLC22A5):c.172C>G (p.Leu58Val)
NM_003060.4(SLC22A5):c.176G>A (p.Ser59Asn) rs1482607262
NM_003060.4(SLC22A5):c.177C>G (p.Ser59Arg)
NM_003060.4(SLC22A5):c.182C>T (p.Ala61Val)
NM_003060.4(SLC22A5):c.187C>G (p.Arg63Gly) rs1297367229
NM_003060.4(SLC22A5):c.191A>T (p.Asn64Ile)
NM_003060.4(SLC22A5):c.194A>C (p.His65Pro)
NM_003060.4(SLC22A5):c.194A>T (p.His65Leu)
NM_003060.4(SLC22A5):c.196A>C (p.Thr66Pro) rs1476076948
NM_003060.4(SLC22A5):c.196A>G (p.Thr66Ala)
NM_003060.4(SLC22A5):c.202C>T (p.Pro68Ser) rs1045644394
NM_003060.4(SLC22A5):c.210_211delinsAA (p.Leu71Met) rs1751844120
NM_003060.4(SLC22A5):c.215G>A (p.Arg72Gln)
NM_003060.4(SLC22A5):c.215G>C (p.Arg72Pro) rs1177265994
NM_003060.4(SLC22A5):c.217G>A (p.Asp73Asn)
NM_003060.4(SLC22A5):c.220G>C (p.Gly74Arg)
NM_003060.4(SLC22A5):c.223C>A (p.Arg75Ser)
NM_003060.4(SLC22A5):c.232C>T (p.Pro78Ser) rs1485828747
NM_003060.4(SLC22A5):c.233C>G (p.Pro78Arg) rs1751846688
NM_003060.4(SLC22A5):c.233C>T (p.Pro78Leu) rs1751846688
NM_003060.4(SLC22A5):c.235C>A (p.His79Asn)
NM_003060.4(SLC22A5):c.237C>A (p.His79Gln)
NM_003060.4(SLC22A5):c.23C>T (p.Thr8Ile)
NM_003060.4(SLC22A5):c.242G>A (p.Cys81Tyr) rs1561560884
NM_003060.4(SLC22A5):c.245G>T (p.Arg82Leu)
NM_003060.4(SLC22A5):c.245_246delinsTT (p.Arg82Leu)
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.252C>T (p.Tyr84=) rs1253026669
NM_003060.4(SLC22A5):c.265A>G (p.Ile89Val) rs765849408
NM_003060.4(SLC22A5):c.268G>T (p.Ala90Ser)
NM_003060.4(SLC22A5):c.26C>G (p.Ala9Gly)
NM_003060.4(SLC22A5):c.274T>G (p.Phe92Val)
NM_003060.4(SLC22A5):c.275T>C (p.Phe92Ser)
NM_003060.4(SLC22A5):c.281C>T (p.Ala94Val)
NM_003060.4(SLC22A5):c.283C>G (p.Leu95Val) rs386134191
NM_003060.4(SLC22A5):c.286G>A (p.Gly96Arg)
NM_003060.4(SLC22A5):c.289C>A (p.Leu97Met)
NM_003060.4(SLC22A5):c.289C>G (p.Leu97Val)
NM_003060.4(SLC22A5):c.292G>A (p.Glu98Lys)
NM_003060.4(SLC22A5):c.295C>T (p.Pro99Ser) rs2126765451
NM_003060.4(SLC22A5):c.296C>T (p.Pro99Leu) rs2126765457
NM_003060.4(SLC22A5):c.29T>A (p.Phe10Tyr) rs1751823291
NM_003060.4(SLC22A5):c.304G>A (p.Asp102Asn)
NM_003060.4(SLC22A5):c.306C>A (p.Asp102Glu) rs1751854895
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.32T>C (p.Leu11Pro) rs1751823540
NM_003060.4(SLC22A5):c.341T>C (p.Leu114Pro)
NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly) rs386134192
NM_003060.4(SLC22A5):c.35G>A (p.Gly12Asp) rs886043206
NM_003060.4(SLC22A5):c.35_36delinsAT (p.Gly12Asp)
NM_003060.4(SLC22A5):c.366C>G (p.Asp122Glu) rs2126765599
NM_003060.4(SLC22A5):c.37G>A (p.Glu13Lys) rs553647459
NM_003060.4(SLC22A5):c.393+5G>A rs1554086029
NM_003060.4(SLC22A5):c.394-151C>G
NM_003060.4(SLC22A5):c.39G>C (p.Glu13Asp) rs1561560357
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg) rs756863825
NM_003060.4(SLC22A5):c.412G>A (p.Asp138Asn) rs534336326
NM_003060.4(SLC22A5):c.412G>T (p.Asp138Tyr) rs534336326
NM_003060.4(SLC22A5):c.412GAC[1] (p.Asp139del) rs1554086841
NM_003060.4(SLC22A5):c.418T>C (p.Trp140Arg) rs1554086844
NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup) rs1554085901
NM_003060.4(SLC22A5):c.447C>G (p.Phe149Leu) rs780989844
NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu) rs751129547
NM_003060.4(SLC22A5):c.451G>T (p.Val151Leu) rs386134193
NM_003060.4(SLC22A5):c.461T>C (p.Leu154Pro) rs1752227681
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.474_476dup (p.Ile159dup) rs2126775790
NM_003060.4(SLC22A5):c.475A>C (p.Ile159Leu)
NM_003060.4(SLC22A5):c.476T>C (p.Ile159Thr)
NM_003060.4(SLC22A5):c.496A>G (p.Arg166Gly)
NM_003060.4(SLC22A5):c.497+5G>T
NM_003060.4(SLC22A5):c.4C>G (p.Arg2Gly) rs762330138
NM_003060.4(SLC22A5):c.514G>A (p.Val172Met) rs558978831
NM_003060.4(SLC22A5):c.518T>C (p.Leu173Pro) rs1752441594
NM_003060.4(SLC22A5):c.52C>G (p.Gln18Glu) rs2126764773
NM_003060.4(SLC22A5):c.535A>T (p.Met179Leu) rs386134196
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu) rs1437174685
NM_003060.4(SLC22A5):c.53A>G (p.Gln18Arg) rs2126764776
NM_003060.4(SLC22A5):c.544G>T (p.Gly182Cys)
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser) rs1319889867
NM_003060.4(SLC22A5):c.565T>C (p.Phe189Leu)
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)
NM_003060.4(SLC22A5):c.589G>T (p.Val197Phe)
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu) rs757979350
NM_003060.4(SLC22A5):c.596T>C (p.Leu199Pro) rs1752446862
NM_003060.4(SLC22A5):c.5G>C (p.Arg2Pro)
NM_003060.4(SLC22A5):c.602T>C (p.Val201Ala)
NM_003060.4(SLC22A5):c.608T>C (p.Val203Ala)
NM_003060.4(SLC22A5):c.614T>A (p.Met205Lys) rs796052033
NM_003060.4(SLC22A5):c.635T>C (p.Val212Ala) rs1580884645
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.646G>C (p.Val216Leu)
NM_003060.4(SLC22A5):c.646G>T (p.Val216Phe) rs1752450375
NM_003060.4(SLC22A5):c.656C>T (p.Thr219Ile) rs2126783561
NM_003060.4(SLC22A5):c.671A>T (p.Lys224Met)
NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)
NM_003060.4(SLC22A5):c.686T>C (p.Ile229Thr)
NM_003060.4(SLC22A5):c.687_689del (p.Phe230del) rs1173523095
NM_003060.4(SLC22A5):c.692C>G (p.Ser231Cys) rs386134206
NM_003060.4(SLC22A5):c.693T>C (p.Ser231=) rs2126783662
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
NM_003060.4(SLC22A5):c.704T>C (p.Val235Ala) rs796052034
NM_003060.4(SLC22A5):c.704T>G (p.Val235Gly) rs796052034
NM_003060.4(SLC22A5):c.706T>A (p.Cys236Ser)
NM_003060.4(SLC22A5):c.707_708delinsTT (p.Cys236Phe) rs2126783727
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_003060.4(SLC22A5):c.730A>T (p.Met244Leu)
NM_003060.4(SLC22A5):c.733G>A (p.Val245Met)
NM_003060.4(SLC22A5):c.754T>C (p.Phe252Leu) rs1317233708
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=) rs121908893
NM_003060.4(SLC22A5):c.76A>G (p.Ser26Gly) rs1751828398
NM_003060.4(SLC22A5):c.773T>C (p.Met258Thr) rs1430095203
NM_003060.4(SLC22A5):c.788T>G (p.Leu263Arg) rs1400244280
NM_003060.4(SLC22A5):c.794T>G (p.Met265Arg) rs1752495086
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu) rs538372785
NM_003060.4(SLC22A5):c.79G>A (p.Ala27Thr)
NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu) rs775430253
NM_003060.4(SLC22A5):c.800G>C (p.Gly267Ala)
NM_003060.4(SLC22A5):c.802G>A (p.Val268Met)
NM_003060.4(SLC22A5):c.815C>T (p.Ala272Val)
NM_003060.4(SLC22A5):c.825-8_825-6dup rs1752553572
NM_003060.4(SLC22A5):c.833C>T (p.Pro278Leu)
NM_003060.4(SLC22A5):c.836A>T (p.Glu279Val) rs2126785898
NM_003060.4(SLC22A5):c.842C>T (p.Pro281Leu) rs1064793269
NM_003060.4(SLC22A5):c.84C>G (p.Ser28Arg)
NM_003060.4(SLC22A5):c.854T>A (p.Ile285Asn) rs1752556276
NM_003060.4(SLC22A5):c.856T>C (p.Ser286Pro) rs1752556458
NM_003060.4(SLC22A5):c.861G>C (p.Gln287His) rs1182361371
NM_003060.4(SLC22A5):c.865_867del (p.Arg289del) rs1554087707
NM_003060.4(SLC22A5):c.866G>A (p.Arg289Gln) rs756260416
NM_003060.4(SLC22A5):c.867A>G (p.Arg289=) rs2126786031
NM_003060.4(SLC22A5):c.872A>G (p.Glu291Gly) rs2126786042
NM_003060.4(SLC22A5):c.883G>A (p.Val295Met) rs2126786073
NM_003060.4(SLC22A5):c.888C>G (p.Ile296Met) rs2126786080
NM_003060.4(SLC22A5):c.892C>G (p.Arg298Gly)
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.898G>A (p.Ala300Thr) rs1752558842
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
NM_003060.4(SLC22A5):c.922G>A (p.Val308Met) rs1752559686
NM_003060.4(SLC22A5):c.929C>T (p.Ser310Phe) rs368926084
NM_003060.4(SLC22A5):c.932C>T (p.Thr311Ile) rs770408585
NM_003060.4(SLC22A5):c.939T>A (p.Phe313Leu) rs1554087737
NM_003060.4(SLC22A5):c.951+3A>C rs2126786209
NM_003060.4(SLC22A5):c.951+5G>C rs1752561167
NM_003060.4(SLC22A5):c.962T>G (p.Leu321Arg) rs1752616522
NM_003060.4(SLC22A5):c.964A>G (p.Ser322Gly) rs1561574065
NM_003060.4(SLC22A5):c.967T>C (p.Ser323Pro) rs1561574073
NM_003060.4(SLC22A5):c.968C>T (p.Ser323Phe) rs2126788019
NM_003060.4(SLC22A5):c.971A>G (p.Lys324Arg)
NM_003060.4(SLC22A5):c.976C>A (p.Gln326Lys) rs1047810495
NM_003060.4(SLC22A5):c.976C>G (p.Gln326Glu) rs1047810495
NM_003060.4(SLC22A5):c.980A>C (p.Gln327Pro) rs886059908
NM_003060.4(SLC22A5):c.990_1016del (p.Leu332_Ile340del) rs1561574113

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.