ClinVar Miner

List of variants reported as likely benign for Renal carnitine transport defect by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 408
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HGVS dbSNP gnomAD frequency
NC_000005.10:g.132369654C>A rs60978556 0.00870
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
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.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.75C>T (p.Leu25=) rs144054688 0.00054
NM_003060.4(SLC22A5):c.1341C>T (p.Tyr447=) rs58188318 0.00052
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450 0.00029
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_003060.4(SLC22A5):c.798G>A (p.Pro266=) rs143758508 0.00022
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.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.498-8C>T rs370645111 0.00009
NM_003060.4(SLC22A5):c.777G>T (p.Leu259=) rs370175430 0.00009
NM_003060.4(SLC22A5):c.93C>T (p.Pro31=) rs375293546 0.00009
NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn) rs577131769 0.00007
NM_003060.4(SLC22A5):c.570G>A (p.Ser190=) rs561032476 0.00006
NM_003060.4(SLC22A5):c.1458C>T (p.Tyr486=) rs763224132 0.00005
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=) rs758572818 0.00004
NM_003060.4(SLC22A5):c.1053-10T>C rs377069432 0.00004
NM_003060.4(SLC22A5):c.1086G>A (p.Ser362=) rs764371993 0.00004
NM_003060.4(SLC22A5):c.1101C>T (p.Asn367=) rs1012487647 0.00004
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=) rs200637508 0.00004
NM_003060.4(SLC22A5):c.1140G>A (p.Ala380=) rs375679167 0.00004
NM_003060.4(SLC22A5):c.1296G>C (p.Val432=) rs755533900 0.00004
NM_003060.4(SLC22A5):c.1450+18A>G rs11568516 0.00004
NM_003060.4(SLC22A5):c.1587-15T>A rs762259659 0.00004
NM_003060.4(SLC22A5):c.246C>T (p.Arg82=) rs377767448 0.00004
NM_003060.4(SLC22A5):c.591C>T (p.Val197=) rs113656768 0.00004
NM_003060.4(SLC22A5):c.1053-14G>A rs779432700 0.00003
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp) rs200125400 0.00003
NM_003060.4(SLC22A5):c.1468C>T (p.Leu490=) rs1580895743 0.00003
NM_003060.4(SLC22A5):c.1539C>T (p.Phe513=) rs370593952 0.00003
NM_003060.4(SLC22A5):c.1548A>G (p.Pro516=) rs1253149319 0.00003
NM_003060.4(SLC22A5):c.1587-11T>G rs772775759 0.00003
NM_003060.4(SLC22A5):c.312C>T (p.Asp104=) rs895049211 0.00003
NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg) rs200290813 0.00003
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=) rs748677211 0.00003
NM_003060.4(SLC22A5):c.843C>T (p.Pro281=) rs764544978 0.00003
NM_003060.4(SLC22A5):c.1053-19C>A rs372778184 0.00002
NM_003060.4(SLC22A5):c.1185A>G (p.Gln395=) rs916795176 0.00002
NM_003060.4(SLC22A5):c.1267+20A>G rs372336902 0.00002
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=) rs1226557478 0.00002
NM_003060.4(SLC22A5):c.306C>T (p.Asp102=) rs1751854895 0.00002
NM_003060.4(SLC22A5):c.393+8C>T rs1481183476 0.00002
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=) rs145350949 0.00002
NM_003060.4(SLC22A5):c.573G>T (p.Lys191Asn) rs765204844 0.00002
NM_003060.4(SLC22A5):c.810C>T (p.Cys270=) rs200046767 0.00002
NM_003060.4(SLC22A5):c.105C>T (p.Thr35=) rs765461422 0.00001
NM_003060.4(SLC22A5):c.111G>C (p.Leu37=) rs762780354 0.00001
NM_003060.4(SLC22A5):c.114C>T (p.Ser38=) rs756867867 0.00001
NM_003060.4(SLC22A5):c.1177C>T (p.Leu393=) rs368514254 0.00001
NM_003060.4(SLC22A5):c.117C>T (p.Ser39=) rs201427730 0.00001
NM_003060.4(SLC22A5):c.1227G>C (p.Leu409=) rs1346191785 0.00001
NM_003060.4(SLC22A5):c.1267+14G>A rs769114259 0.00001
NM_003060.4(SLC22A5):c.1268-20T>A rs1752733205 0.00001
NM_003060.4(SLC22A5):c.1320G>A (p.Thr440=) rs747285272 0.00001
NM_003060.4(SLC22A5):c.1332C>T (p.Ser444=) rs769918856 0.00001
NM_003060.4(SLC22A5):c.1353C>T (p.Ala451=) rs374662740 0.00001
NM_003060.4(SLC22A5):c.1359G>A (p.Leu453=) rs1168638815 0.00001
NM_003060.4(SLC22A5):c.135C>G (p.Thr45=) rs202000855 0.00001
NM_003060.4(SLC22A5):c.1395C>G (p.Val465=) rs781562637 0.00001
NM_003060.4(SLC22A5):c.144C>T (p.His48=) rs745897099 0.00001
NM_003060.4(SLC22A5):c.1450+10A>G rs1487082253 0.00001
NM_003060.4(SLC22A5):c.1450+7C>A rs1223468160 0.00001
NM_003060.4(SLC22A5):c.1451-17C>T rs771588323 0.00001
NM_003060.4(SLC22A5):c.147C>T (p.Arg49=) rs1461536917 0.00001
NM_003060.4(SLC22A5):c.150C>T (p.Cys50=) rs974348546 0.00001
NM_003060.4(SLC22A5):c.1515C>T (p.Leu505=) rs780129415 0.00001
NM_003060.4(SLC22A5):c.153G>A (p.Arg51=) rs1330041441 0.00001
NM_003060.4(SLC22A5):c.1563T>C (p.Ile521=) rs1325105843 0.00001
NM_003060.4(SLC22A5):c.1578A>G (p.Arg526=) rs1554088590 0.00001
NM_003060.4(SLC22A5):c.207G>A (p.Leu69=) rs377767446 0.00001
NM_003060.4(SLC22A5):c.24C>A (p.Thr8=) rs766678115 0.00001
NM_003060.4(SLC22A5):c.300G>A (p.Gly100=) rs552442289 0.00001
NM_003060.4(SLC22A5):c.303C>T (p.Arg101=) rs1368157214 0.00001
NM_003060.4(SLC22A5):c.30C>T (p.Phe10=) rs574313463 0.00001
NM_003060.4(SLC22A5):c.315G>C (p.Leu105=) rs1012140520 0.00001
NM_003060.4(SLC22A5):c.318G>A (p.Gly106=) rs1214969369 0.00001
NM_003060.4(SLC22A5):c.393+10G>A rs1365783263 0.00001
NM_003060.4(SLC22A5):c.394-10C>T rs748687943 0.00001
NM_003060.4(SLC22A5):c.399C>T (p.Asn133=) rs1027119483 0.00001
NM_003060.4(SLC22A5):c.405G>A (p.Val135=) rs777083211 0.00001
NM_003060.4(SLC22A5):c.450C>T (p.Phe150=) rs756089971 0.00001
NM_003060.4(SLC22A5):c.462G>A (p.Leu154=) rs771808266 0.00001
NM_003060.4(SLC22A5):c.463T>C (p.Leu155=) rs777136671 0.00001
NM_003060.4(SLC22A5):c.497+19G>A rs764058694 0.00001
NM_003060.4(SLC22A5):c.497+9T>C rs969798244 0.00001
NM_003060.4(SLC22A5):c.498-4C>A rs778593047 0.00001
NM_003060.4(SLC22A5):c.546C>T (p.Gly182=) rs1329903175 0.00001
NM_003060.4(SLC22A5):c.63C>T (p.Ile21=) rs769437903 0.00001
NM_003060.4(SLC22A5):c.717T>C (p.Tyr239=) rs1370546808 0.00001
NM_003060.4(SLC22A5):c.747T>C (p.Phe249=) rs746473075 0.00001
NM_003060.4(SLC22A5):c.786G>A (p.Ala262=) rs758916243 0.00001
NM_003060.4(SLC22A5):c.792G>A (p.Thr264=) rs771014732 0.00001
NM_003060.4(SLC22A5):c.801G>A (p.Gly267=) rs554745191 0.00001
NM_003060.4(SLC22A5):c.825-10G>A rs766084888 0.00001
NM_003060.4(SLC22A5):c.942C>T (p.Asp314=) rs1752560559 0.00001
NM_003060.4(SLC22A5):c.945G>A (p.Pro315=) rs764733247 0.00001
NM_003060.4(SLC22A5):c.951+10_951+15del rs769613982 0.00001
NM_003060.4(SLC22A5):c.1011C>T (p.Thr337=)
NM_003060.4(SLC22A5):c.1023G>A (p.Arg341=)
NM_003060.4(SLC22A5):c.1035C>T (p.Ile345=) rs780982778
NM_003060.4(SLC22A5):c.1041C>T (p.Ser347=)
NM_003060.4(SLC22A5):c.1050G>A (p.Leu350=)
NM_003060.4(SLC22A5):c.1052+10A>G
NM_003060.4(SLC22A5):c.1052+11G>T
NM_003060.4(SLC22A5):c.1053-12A>G
NM_003060.4(SLC22A5):c.1053-13_1053-7del
NM_003060.4(SLC22A5):c.1053-16C>A
NM_003060.4(SLC22A5):c.1053-17T>C
NM_003060.4(SLC22A5):c.1053-17T>G
NM_003060.4(SLC22A5):c.1053-19C>T
NM_003060.4(SLC22A5):c.1053-20T>C
NM_003060.4(SLC22A5):c.1053-7G>A rs747417349
NM_003060.4(SLC22A5):c.1053-7G>T
NM_003060.4(SLC22A5):c.1053-7_1053-6del
NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=) rs139508856
NM_003060.4(SLC22A5):c.1080G>T (p.Gly360=) rs139508856
NM_003060.4(SLC22A5):c.108C>T (p.Gly36=)
NM_003060.4(SLC22A5):c.1107T>C (p.His369=) rs1580892312
NM_003060.4(SLC22A5):c.111G>A (p.Leu37=)
NM_003060.4(SLC22A5):c.1131C>T (p.Phe377=) rs2126789694
NM_003060.4(SLC22A5):c.1140G>C (p.Ala380=)
NM_003060.4(SLC22A5):c.1146T>C (p.Val382=) rs1405950971
NM_003060.4(SLC22A5):c.1146T>G (p.Val382=)
NM_003060.4(SLC22A5):c.1149A>G (p.Glu383=) rs1450996221
NM_003060.4(SLC22A5):c.114C>G (p.Ser38=) rs756867867
NM_003060.4(SLC22A5):c.1152C>T (p.Val384=)
NM_003060.4(SLC22A5):c.1155A>G (p.Pro385=)
NM_003060.4(SLC22A5):c.1158A>G (p.Ala386=)
NM_003060.4(SLC22A5):c.1164G>A (p.Val388=) rs1752671285
NM_003060.4(SLC22A5):c.1170C>G (p.Ala390=) rs774368158
NM_003060.4(SLC22A5):c.1182G>A (p.Leu394=) rs2126789783
NM_003060.4(SLC22A5):c.120G>A (p.Val40=)
NM_003060.4(SLC22A5):c.1212C>T (p.Ala404=)
NM_003060.4(SLC22A5):c.1218C>T (p.Ala406=)
NM_003060.4(SLC22A5):c.1225C>T (p.Leu409=)
NM_003060.4(SLC22A5):c.1227G>T (p.Leu409=)
NM_003060.4(SLC22A5):c.1239C>T (p.Val413=)
NM_003060.4(SLC22A5):c.1242T>C (p.Leu414=)
NM_003060.4(SLC22A5):c.1255C>T (p.Leu419=) rs780591287
NM_003060.4(SLC22A5):c.1267+12G>A
NM_003060.4(SLC22A5):c.1267+14G>C
NM_003060.4(SLC22A5):c.1267+16A>C rs2126789947
NM_003060.4(SLC22A5):c.1267+9C>T
NM_003060.4(SLC22A5):c.1268-15C>A
NM_003060.4(SLC22A5):c.1268-16del
NM_003060.4(SLC22A5):c.1268-19C>T
NM_003060.4(SLC22A5):c.1268-4C>T rs2126791278
NM_003060.4(SLC22A5):c.1268-9C>A
NM_003060.4(SLC22A5):c.1268-9C>T rs1183308619
NM_003060.4(SLC22A5):c.126G>T (p.Leu42=) rs2126764965
NM_003060.4(SLC22A5):c.1290C>T (p.Val430=)
NM_003060.4(SLC22A5):c.1293G>A (p.Leu431=) rs1580894161
NM_003060.4(SLC22A5):c.1296G>A (p.Val432=)
NM_003060.4(SLC22A5):c.1323T>C (p.Ala441=)
NM_003060.4(SLC22A5):c.1326C>T (p.Ala442=)
NM_003060.4(SLC22A5):c.132G>A (p.Ala44=)
NM_003060.4(SLC22A5):c.132G>C (p.Ala44=)
NM_003060.4(SLC22A5):c.1350A>G (p.Thr450=) rs1752737905
NM_003060.4(SLC22A5):c.1357C>T (p.Leu453=) rs1752738264
NM_003060.4(SLC22A5):c.135C>A (p.Thr45=) rs202000855
NM_003060.4(SLC22A5):c.135C>T (p.Thr45=) rs202000855
NM_003060.4(SLC22A5):c.1386T>C (p.Gly462=) rs757611449
NM_003060.4(SLC22A5):c.138G>A (p.Pro46=) rs895093633
NM_003060.4(SLC22A5):c.1392A>G (p.Gly464=)
NM_003060.4(SLC22A5):c.1401C>T (p.Ser467=) rs1449055165
NM_003060.4(SLC22A5):c.1419C>A (p.Gly473=) rs1752741619
NM_003060.4(SLC22A5):c.141G>A (p.Glu47=)
NM_003060.4(SLC22A5):c.1425C>T (p.Ile475=)
NM_003060.4(SLC22A5):c.1428G>A (p.Leu476=)
NM_003060.4(SLC22A5):c.1437C>T (p.Tyr479=) rs761305616
NM_003060.4(SLC22A5):c.1446C>T (p.Tyr482=)
NM_003060.4(SLC22A5):c.1450+20G>A
NM_003060.4(SLC22A5):c.1450+7C>T
NM_003060.4(SLC22A5):c.1450+8C>A rs1261757663
NM_003060.4(SLC22A5):c.1450+8C>G
NM_003060.4(SLC22A5):c.1451-10T>G rs2126792599
NM_003060.4(SLC22A5):c.1451-11C>G
NM_003060.4(SLC22A5):c.1451-18C>G
NM_003060.4(SLC22A5):c.1451-4A>G
NM_003060.4(SLC22A5):c.1451-5C>T
NM_003060.4(SLC22A5):c.1452T>G (p.Gly484=) rs2126792615
NM_003060.4(SLC22A5):c.1461C>T (p.Asp487=)
NM_003060.4(SLC22A5):c.1467C>T (p.Phe489=)
NM_003060.4(SLC22A5):c.1482C>T (p.Leu494=) rs771112492
NM_003060.4(SLC22A5):c.1494G>A (p.Leu498=) rs2126792684
NM_003060.4(SLC22A5):c.1497C>G (p.Thr499=)
NM_003060.4(SLC22A5):c.1500C>A (p.Ile500=) rs1182348785
NM_003060.4(SLC22A5):c.1501C>T (p.Leu501=) rs1476878301
NM_003060.4(SLC22A5):c.1506A>G (p.Thr502=) rs2126792698
NM_003060.4(SLC22A5):c.1512C>T (p.Ile504=) rs2126792708
NM_003060.4(SLC22A5):c.1521G>A (p.Leu507=) rs778716973
NM_003060.4(SLC22A5):c.1527C>A (p.Leu509=)
NM_003060.4(SLC22A5):c.1533G>A (p.Glu511=) rs748111365
NM_003060.4(SLC22A5):c.1536C>T (p.Ser512=)
NM_003060.4(SLC22A5):c.153G>C (p.Arg51=)
NM_003060.4(SLC22A5):c.153G>T (p.Arg51=) rs1330041441
NM_003060.4(SLC22A5):c.1551C>G (p.Leu517=) rs763424726
NM_003060.4(SLC22A5):c.1554A>G (p.Pro518=)
NM_003060.4(SLC22A5):c.1566C>T (p.Asp522=)
NM_003060.4(SLC22A5):c.1569G>A (p.Gln523=) rs1462008023
NM_003060.4(SLC22A5):c.1581C>G (p.Val527=)
NM_003060.4(SLC22A5):c.1586+11C>T
NM_003060.4(SLC22A5):c.1586+12T>C
NM_003060.4(SLC22A5):c.1586+13C>T rs2126792892
NM_003060.4(SLC22A5):c.1586+14_1586+16del
NM_003060.4(SLC22A5):c.1586+15T>C
NM_003060.4(SLC22A5):c.1586+19T>C
NM_003060.4(SLC22A5):c.1586+9A>C rs1554088592
NM_003060.4(SLC22A5):c.1587-11del
NM_003060.4(SLC22A5):c.1587-12T>C
NM_003060.4(SLC22A5):c.1587-13C>T
NM_003060.4(SLC22A5):c.1587-14G>C
NM_003060.4(SLC22A5):c.1587-18T>G
NM_003060.4(SLC22A5):c.1587-4A>G
NM_003060.4(SLC22A5):c.1587-6T>C
NM_003060.4(SLC22A5):c.1587-7T>A
NM_003060.4(SLC22A5):c.1587-8T>G
NM_003060.4(SLC22A5):c.1596C>T (p.His532=) rs1752802142
NM_003060.4(SLC22A5):c.1605T>G (p.Thr535=) rs2126793211
NM_003060.4(SLC22A5):c.1614C>T (p.His538=)
NM_003060.4(SLC22A5):c.1620G>A (p.Arg540=) rs2126793240
NM_003060.4(SLC22A5):c.1624T>C (p.Leu542=) rs2126793254
NM_003060.4(SLC22A5):c.162C>T (p.Asp54=)
NM_003060.4(SLC22A5):c.1632T>C (p.Asp544=)
NM_003060.4(SLC22A5):c.1638A>G (p.Gln546=)
NM_003060.4(SLC22A5):c.1644G>A (p.Arg548=) rs2126793283
NM_003060.4(SLC22A5):c.1653C>T (p.Ile551=) rs1429160208
NM_003060.4(SLC22A5):c.165C>T (p.Ala55=)
NM_003060.4(SLC22A5):c.1662C>T (p.Ser554=)
NM_003060.4(SLC22A5):c.1665A>T (p.Thr555=) rs1161715534
NM_003060.4(SLC22A5):c.1671C>T (p.Phe557=) rs2126793329
NM_003060.4(SLC22A5):c.183C>T (p.Ala61=) rs1226557478
NM_003060.4(SLC22A5):c.195C>T (p.His65=) rs1751841574
NM_003060.4(SLC22A5):c.198T>C (p.Thr66=) rs2126765172
NM_003060.4(SLC22A5):c.201C>A (p.Val67=)
NM_003060.4(SLC22A5):c.204A>G (p.Pro68=)
NM_003060.4(SLC22A5):c.205C>T (p.Leu69=) rs1751843098
NM_003060.4(SLC22A5):c.211C>T (p.Leu71=) rs977811294
NM_003060.4(SLC22A5):c.21G>T (p.Val7=)
NM_003060.4(SLC22A5):c.228G>A (p.Glu76=)
NM_003060.4(SLC22A5):c.243C>T (p.Cys81=)
NM_003060.4(SLC22A5):c.252C>T (p.Tyr84=) rs1253026669
NM_003060.4(SLC22A5):c.258C>T (p.Leu86=) rs1364454011
NM_003060.4(SLC22A5):c.264C>T (p.Thr88=)
NM_003060.4(SLC22A5):c.267C>T (p.Ile89=) rs2126765387
NM_003060.4(SLC22A5):c.270C>T (p.Ala90=)
NM_003060.4(SLC22A5):c.279G>T (p.Ser93=)
NM_003060.4(SLC22A5):c.27C>T (p.Ala9=)
NM_003060.4(SLC22A5):c.285T>G (p.Leu95=)
NM_003060.4(SLC22A5):c.300G>C (p.Gly100=)
NM_003060.4(SLC22A5):c.313C>T (p.Leu105=) rs1239293137
NM_003060.4(SLC22A5):c.31C>T (p.Leu11=)
NM_003060.4(SLC22A5):c.330G>A (p.Gln110=)
NM_003060.4(SLC22A5):c.333G>A (p.Glu111=) rs1253086449
NM_003060.4(SLC22A5):c.342G>A (p.Leu114=)
NM_003060.4(SLC22A5):c.345T>C (p.Asp115=)
NM_003060.4(SLC22A5):c.354G>A (p.Glu118=)
NM_003060.4(SLC22A5):c.357C>T (p.Phe119=)
NM_003060.4(SLC22A5):c.360T>C (p.Ser120=) rs1580868397
NM_003060.4(SLC22A5):c.363G>A (p.Gln121=) rs758991830
NM_003060.4(SLC22A5):c.366C>T (p.Asp122=)
NM_003060.4(SLC22A5):c.36C>T (p.Gly12=)
NM_003060.4(SLC22A5):c.372C>T (p.Tyr124=)
NM_003060.4(SLC22A5):c.373C>T (p.Leu125=)
NM_003060.4(SLC22A5):c.378C>T (p.Ser126=) rs2126765624
NM_003060.4(SLC22A5):c.381C>T (p.Thr127=) rs1007882103
NM_003060.4(SLC22A5):c.384T>C (p.Ile128=)
NM_003060.4(SLC22A5):c.387G>C (p.Val129=) rs1018330141
NM_003060.4(SLC22A5):c.390C>T (p.Thr130=)
NM_003060.4(SLC22A5):c.393+12C>T
NM_003060.4(SLC22A5):c.393+15C>T
NM_003060.4(SLC22A5):c.393+17G>T
NM_003060.4(SLC22A5):c.393+7G>T rs2126765681
NM_003060.4(SLC22A5):c.393+9C>T rs1751861935
NM_003060.4(SLC22A5):c.394-11T>C
NM_003060.4(SLC22A5):c.394-11T>G
NM_003060.4(SLC22A5):c.394-12C>T
NM_003060.4(SLC22A5):c.394-15T>G
NM_003060.4(SLC22A5):c.394-18C>G rs200136788
NM_003060.4(SLC22A5):c.394-9A>G
NM_003060.4(SLC22A5):c.39G>A (p.Glu13=)
NM_003060.4(SLC22A5):c.402G>A (p.Leu134=) rs2126775629
NM_003060.4(SLC22A5):c.402G>C (p.Leu134=) rs2126775629
NM_003060.4(SLC22A5):c.426C>G (p.Ala142=)
NM_003060.4(SLC22A5):c.432C>G (p.Leu144=) rs2126775698
NM_003060.4(SLC22A5):c.435A>G (p.Thr145=) rs1752226152
NM_003060.4(SLC22A5):c.438C>T (p.Ile146=)
NM_003060.4(SLC22A5):c.442T>C (p.Leu148=) rs2126775720
NM_003060.4(SLC22A5):c.453G>C (p.Val151=)
NM_003060.4(SLC22A5):c.453G>T (p.Val151=)
NM_003060.4(SLC22A5):c.45G>C (p.Gly15=)
NM_003060.4(SLC22A5):c.462G>C (p.Leu154=) rs771808266
NM_003060.4(SLC22A5):c.468C>T (p.Gly156=) rs1413484773
NM_003060.4(SLC22A5):c.480A>G (p.Ser160=)
NM_003060.4(SLC22A5):c.489G>A (p.Leu163=) rs2126775815
NM_003060.4(SLC22A5):c.497+10C>T rs1019521695
NM_003060.4(SLC22A5):c.497+11T>C rs2126775852
NM_003060.4(SLC22A5):c.497+12G>A
NM_003060.4(SLC22A5):c.497+19G>C
NM_003060.4(SLC22A5):c.497+7T>C
NM_003060.4(SLC22A5):c.497+8G>A
NM_003060.4(SLC22A5):c.497+9T>A
NM_003060.4(SLC22A5):c.498-4C>T
NM_003060.4(SLC22A5):c.498-6T>C rs2126782125
NM_003060.4(SLC22A5):c.4C>A (p.Arg2=)
NM_003060.4(SLC22A5):c.517C>T (p.Leu173=)
NM_003060.4(SLC22A5):c.528C>G (p.Thr176=)
NM_003060.4(SLC22A5):c.528C>T (p.Thr176=) rs1752442501
NM_003060.4(SLC22A5):c.549C>T (p.Phe183=)
NM_003060.4(SLC22A5):c.556C>T (p.Leu186=) rs569496252
NM_003060.4(SLC22A5):c.561G>A (p.Gln187=)
NM_003060.4(SLC22A5):c.564C>A (p.Ile188=) rs2126782265
NM_003060.4(SLC22A5):c.576T>C (p.Asn192=)
NM_003060.4(SLC22A5):c.600T>C (p.Phe200=) rs2126782358
NM_003060.4(SLC22A5):c.606T>C (p.Leu202=) rs2126782367
NM_003060.4(SLC22A5):c.618C>T (p.Gly206=) rs1752448479
NM_003060.4(SLC22A5):c.636G>A (p.Val212=)
NM_003060.4(SLC22A5):c.642A>G (p.Ala214=) rs2126782462
NM_003060.4(SLC22A5):c.652+11C>G rs916434461
NM_003060.4(SLC22A5):c.652+18G>A
NM_003060.4(SLC22A5):c.652+9A>T rs2126782491
NM_003060.4(SLC22A5):c.653-10T>A rs765335540
NM_003060.4(SLC22A5):c.653-10T>C rs765335540
NM_003060.4(SLC22A5):c.653-18C>T
NM_003060.4(SLC22A5):c.653-7T>C
NM_003060.4(SLC22A5):c.663T>C (p.Ile221=)
NM_003060.4(SLC22A5):c.666T>A (p.Leu222=)
NM_003060.4(SLC22A5):c.66C>T (p.Phe22=)
NM_003060.4(SLC22A5):c.672G>A (p.Lys224=) rs2126783589
NM_003060.4(SLC22A5):c.675A>C (p.Ser225=)
NM_003060.4(SLC22A5):c.696G>T (p.Thr232=) rs748677211
NM_003060.4(SLC22A5):c.70C>T (p.Leu24=)
NM_003060.4(SLC22A5):c.720A>G (p.Ala240=)
NM_003060.4(SLC22A5):c.729C>T (p.Tyr243=) rs2126783776
NM_003060.4(SLC22A5):c.72G>C (p.Leu24=) rs1225763110
NM_003060.4(SLC22A5):c.744G>A (p.Leu248=) rs1483552442
NM_003060.4(SLC22A5):c.750T>G (p.Ala250=) rs1561571523
NM_003060.4(SLC22A5):c.756C>T (p.Phe252=) rs2126783846
NM_003060.4(SLC22A5):c.765C>T (p.Asp255=)
NM_003060.4(SLC22A5):c.771G>T (p.Arg257=)
NM_003060.4(SLC22A5):c.783G>A (p.Val261=) rs1449646556
NM_003060.4(SLC22A5):c.804G>A (p.Val268=) rs2126784022
NM_003060.4(SLC22A5):c.804G>T (p.Val268=)
NM_003060.4(SLC22A5):c.805C>T (p.Leu269=) rs2126784023
NM_003060.4(SLC22A5):c.816A>C (p.Ala272=)
NM_003060.4(SLC22A5):c.819C>G (p.Leu273=) rs1752497453
NM_003060.4(SLC22A5):c.81C>T (p.Ala27=)
NM_003060.4(SLC22A5):c.824+11C>A rs758784226
NM_003060.4(SLC22A5):c.824+12C>T
NM_003060.4(SLC22A5):c.824+14T>C
NM_003060.4(SLC22A5):c.824+15G>A
NM_003060.4(SLC22A5):c.824+16T>C
NM_003060.4(SLC22A5):c.824+7G>A
NM_003060.4(SLC22A5):c.824+8T>A
NM_003060.4(SLC22A5):c.824+8T>C rs2126784090
NM_003060.4(SLC22A5):c.824+8T>G rs2126784090
NM_003060.4(SLC22A5):c.824+9G>C rs2126784095
NM_003060.4(SLC22A5):c.825-14C>A
NM_003060.4(SLC22A5):c.825-18T>C
NM_003060.4(SLC22A5):c.825-19T>C
NM_003060.4(SLC22A5):c.825-5G>A rs2126785864
NM_003060.4(SLC22A5):c.825-6T>C rs1343850918
NM_003060.4(SLC22A5):c.825-8A>G
NM_003060.4(SLC22A5):c.825-8A>T rs1752553633
NM_003060.4(SLC22A5):c.831C>T (p.Ile277=)
NM_003060.4(SLC22A5):c.840C>A (p.Ser280=)
NM_003060.4(SLC22A5):c.840C>T (p.Ser280=) rs1282015269
NM_003060.4(SLC22A5):c.843C>G (p.Pro281=) rs764544978
NM_003060.4(SLC22A5):c.864A>G (p.Gly288=) rs1416528354
NM_003060.4(SLC22A5):c.865C>A (p.Arg289=)
NM_003060.4(SLC22A5):c.87C>A (p.Ile29=)
NM_003060.4(SLC22A5):c.891C>A (p.Ile297=) rs2126786094
NM_003060.4(SLC22A5):c.894C>T (p.Arg298=)
NM_003060.4(SLC22A5):c.897G>A (p.Lys299=)
NM_003060.4(SLC22A5):c.903C>T (p.Ala301=) rs772101972
NM_003060.4(SLC22A5):c.90C>T (p.Ile30=)
NM_003060.4(SLC22A5):c.912T>C (p.Asn304=)
NM_003060.4(SLC22A5):c.924G>A (p.Val308=) rs2126786151
NM_003060.4(SLC22A5):c.930C>T (p.Ser310=)
NM_003060.4(SLC22A5):c.933T>C (p.Thr311=) rs2126786173
NM_003060.4(SLC22A5):c.945G>T (p.Pro315=) rs764733247
NM_003060.4(SLC22A5):c.951+10A>G
NM_003060.4(SLC22A5):c.951+10A>T rs1752561409
NM_003060.4(SLC22A5):c.951+11T>C
NM_003060.4(SLC22A5):c.951+13T>G rs1348881586
NM_003060.4(SLC22A5):c.951+14G>A
NM_003060.4(SLC22A5):c.951+15G>C
NM_003060.4(SLC22A5):c.951+18G>T
NM_003060.4(SLC22A5):c.951+20G>T rs1405777934
NM_003060.4(SLC22A5):c.951+7A>C
NM_003060.4(SLC22A5):c.951+9C>T
NM_003060.4(SLC22A5):c.952-10G>A
NM_003060.4(SLC22A5):c.952-10_952-8del
NM_003060.4(SLC22A5):c.952-13G>A
NM_003060.4(SLC22A5):c.952-15_952-14insCGTATGA
NM_003060.4(SLC22A5):c.952-17T>C
NM_003060.4(SLC22A5):c.952-19T>C
NM_003060.4(SLC22A5):c.961C>T (p.Leu321=)

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