ClinVar Miner

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

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ClinVar version:
Total variants: 444
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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.1267+5G>A rs367638878 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.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.572A>G (p.Lys191Arg) rs200290813 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.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.-129_-102del rs1279199437
NM_003060.4(SLC22A5):c.-131A>C rs1554085854
NM_003060.4(SLC22A5):c.-206A>C rs1751805896
NM_003060.4(SLC22A5):c.-231G>C rs1751803560
NM_003060.4(SLC22A5):c.-25C>T rs886059907
NM_003060.4(SLC22A5):c.1000C>G (p.Leu334Val)
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.1634G>T (p.Gly545Val)
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>A (p.Arg83His)
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.422A>C (p.Lys141Thr)
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>C (p.Val151Leu)
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.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.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.952-17T>G
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

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