ClinVar Miner

List of variants in gene SLC22A5 reported as likely pathogenic for Renal carnitine transport defect

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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
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.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys) rs386134221 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_003060.4(SLC22A5):c.1053-2A>C rs777004046 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194 0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889 0.00003
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212 0.00002
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter) rs754008420 0.00001
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn) rs61731073 0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val) rs746187344 0.00001
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter) rs121908887 0.00001
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs) rs781330134 0.00001
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe) rs72552733 0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg) rs1408166345 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys) rs749282641 0.00001
NM_003060.4(SLC22A5):c.1412G>T (p.Arg471Leu) rs386134223 0.00001
NM_003060.4(SLC22A5):c.1587-1G>C rs766398620 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 0.00001
NM_003060.4(SLC22A5):c.394-16T>A rs775097754 0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp) rs747821417 0.00001
NM_003060.4(SLC22A5):c.498-1G>C rs747592919 0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro) rs386134197 0.00001
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser) rs386134198 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003060.4(SLC22A5):c.679C>T (p.Arg227Cys) rs546902674 0.00001
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu) rs756650860 0.00001
NM_003060.4(SLC22A5):c.694A>G (p.Thr232Ala) rs188698686 0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs) rs775502377 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 0.00001
NM_003060.4(SLC22A5):c.797C>G (p.Pro266Arg) rs538372785 0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs) rs386134204 0.00001
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe) rs386134208 0.00001
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter) rs931801909 0.00001
NM_003060.4(SLC22A5):c.1014G>A (p.Trp338Ter)
NM_003060.4(SLC22A5):c.1032dup (p.Ile345fs)
NM_003060.4(SLC22A5):c.1052+1G>T rs1554087949
NM_003060.4(SLC22A5):c.1053-6T>C rs1752665099
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
NM_003060.4(SLC22A5):c.1074T>G (p.Tyr358Ter)
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs) rs1580892239
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro) rs386134214
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
NM_003060.4(SLC22A5):c.113C>G (p.Ser38Cys)
NM_003060.4(SLC22A5):c.1147G>T (p.Glu383Ter)
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs) rs1580892402
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1195del (p.Arg399fs)
NM_003060.4(SLC22A5):c.1240del (p.Leu414fs) rs2126789878
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter) rs1057518297
NM_003060.4(SLC22A5):c.1258del (p.Val420fs)
NM_003060.4(SLC22A5):c.1267+1G>A rs1554088200
NM_003060.4(SLC22A5):c.1268-2A>G
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr) rs779385095
NM_003060.4(SLC22A5):c.1299G>A (p.Met433Ile)
NM_003060.4(SLC22A5):c.1313G>A (p.Gly438Glu) rs1580894230
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys) rs1183338050
NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs) rs2126791456
NM_003060.4(SLC22A5):c.136C>G (p.Pro46Ala) rs202088921
NM_003060.4(SLC22A5):c.136_137dup (p.Glu47fs)
NM_003060.4(SLC22A5):c.137del (p.Pro46fs) rs762986044
NM_003060.4(SLC22A5):c.1384G>A (p.Gly462Ser) rs1193551446
NM_003060.4(SLC22A5):c.1385G>A (p.Gly462Asp) rs2126791535
NM_003060.4(SLC22A5):c.1399T>C (p.Ser467Pro)
NM_003060.4(SLC22A5):c.13del (p.Asp5fs) rs1554085892
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg) rs386134221
NM_003060.4(SLC22A5):c.1411C>A (p.Arg471Ser) rs749282641
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.1432C>T (p.Pro478Ser) rs2126791630
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu) rs72552735
NM_003060.4(SLC22A5):c.1450+1G>A
NM_003060.4(SLC22A5):c.1451-1G>A rs386134224
NM_003060.4(SLC22A5):c.1451-2A>G
NM_003060.4(SLC22A5):c.1455dup (p.Tyr486fs) rs1057517306
NM_003060.4(SLC22A5):c.1458C>A (p.Tyr486Ter) rs763224132
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter) rs763224132
NM_003060.4(SLC22A5):c.1477dup (p.Ile493fs)
NM_003060.4(SLC22A5):c.148del (p.Cys50fs) rs386134227
NM_003060.4(SLC22A5):c.1531G>C (p.Glu511Gln)
NM_003060.4(SLC22A5):c.1547del (p.Pro516fs) rs761090705
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs) rs1554088578
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_003060.4(SLC22A5):c.1587-2A>G rs1057516402
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs) rs796052040
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs) rs1057516797
NM_003060.4(SLC22A5):c.185G>A (p.Trp62Ter) rs1554085942
NM_003060.4(SLC22A5):c.1A>G (p.Met1Val) rs774971089
NM_003060.4(SLC22A5):c.1A>T (p.Met1Leu) rs774971089
NM_003060.4(SLC22A5):c.247C>T (p.Arg83Cys) rs749499293
NM_003060.4(SLC22A5):c.248G>C (p.Arg83Pro) rs72552726
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.250T>A (p.Tyr84Asn)
NM_003060.4(SLC22A5):c.252C>G (p.Tyr84Ter) rs1253026669
NM_003060.4(SLC22A5):c.252_265dup (p.Ile89fs) rs1554085973
NM_003060.4(SLC22A5):c.272A>C (p.Asn91Thr)
NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter)
NM_003060.4(SLC22A5):c.280_283dup (p.Leu95fs)
NM_003060.4(SLC22A5):c.2T>G (p.Met1Arg) rs1554085885
NM_003060.4(SLC22A5):c.308T>G (p.Val103Gly)
NM_003060.4(SLC22A5):c.34G>C (p.Gly12Arg)
NM_003060.4(SLC22A5):c.384dup (p.Val129fs)
NM_003060.4(SLC22A5):c.391G>T (p.Glu131Ter) rs1321705165
NM_003060.4(SLC22A5):c.393+1G>A rs1057517069
NM_003060.4(SLC22A5):c.394-141T>C rs1561566541
NM_003060.4(SLC22A5):c.394-1G>T rs1057517106
NM_003060.4(SLC22A5):c.394-2A>G
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile) rs121908892
NM_003060.4(SLC22A5):c.408_409dup (p.Glu137fs)
NM_003060.4(SLC22A5):c.427C>T (p.Pro143Ser)
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter) rs796052036
NM_003060.4(SLC22A5):c.43G>A (p.Gly15Arg)
NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu) rs751129547
NM_003060.4(SLC22A5):c.475_476del (p.Ile159fs)
NM_003060.4(SLC22A5):c.491C>G (p.Ser164Ter) rs1057516765
NM_003060.4(SLC22A5):c.497+1G>A
NM_003060.4(SLC22A5):c.497+2T>A rs1752229268
NM_003060.4(SLC22A5):c.503G>A (p.Gly168Asp) rs1752440697
NM_003060.4(SLC22A5):c.503G>C (p.Gly168Ala)
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.52del (p.Gln18fs) rs1022453298
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu) rs1437174685
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser) rs1319889867
NM_003060.4(SLC22A5):c.55C>T (p.Arg19Cys) rs1319889867
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg) rs796052033
NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His) rs780314370
NM_003060.4(SLC22A5):c.641C>G (p.Ala214Gly)
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.653-2A>C rs386134201
NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val) rs878853249
NM_003060.4(SLC22A5):c.678del (p.Arg227fs)
NM_003060.4(SLC22A5):c.679C>A (p.Arg227Ser)
NM_003060.4(SLC22A5):c.679C>G (p.Arg227Gly)
NM_003060.4(SLC22A5):c.680G>T (p.Arg227Leu) rs185551386
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
NM_003060.4(SLC22A5):c.719C>T (p.Ala240Val)
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg) rs2126783802
NM_003060.4(SLC22A5):c.78C>G (p.Ser26Arg)
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg) rs201262157
NM_003060.4(SLC22A5):c.821G>A (p.Trp274Ter)
NM_003060.4(SLC22A5):c.824+1G>A rs1417000465
NM_003060.4(SLC22A5):c.824+1G>T
NM_003060.4(SLC22A5):c.824G>A (p.Trp275Ter)
NM_003060.4(SLC22A5):c.825-1G>C rs1057516805
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter) rs386134207
NM_003060.4(SLC22A5):c.82_83del (p.Ser28fs)
NM_003060.4(SLC22A5):c.839C>A (p.Ser280Tyr) rs386134208
NM_003060.4(SLC22A5):c.844C>G (p.Arg282Gly) rs121908886
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.849G>T (p.Trp283Cys) rs386134211
NM_003060.4(SLC22A5):c.84C>A (p.Ser28Arg) rs773693788
NM_003060.4(SLC22A5):c.858_859del (p.Gln287fs)
NM_003060.4(SLC22A5):c.901G>A (p.Ala301Thr) rs2126786122
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
NM_003060.4(SLC22A5):c.94A>G (p.Asn32Asp) rs727504158
NM_003060.4(SLC22A5):c.951+1G>A
NM_003060.4(SLC22A5):c.952-1G>T
NM_003060.4(SLC22A5):c.952-2A>G rs1554087913
NM_003060.4(SLC22A5):c.952-5_955del rs2126787981

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