ClinVar Miner

List of variants reported as pathogenic for Renal carnitine transport defect by Invitae

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ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
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.272A>G (p.Asn91Ser) rs546442503 0.00039
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro) rs142447950 0.00035
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.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 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.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter) rs72552731 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.1196G>A (p.Arg399Gln) rs121908891 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 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.113C>A (p.Ser38Tyr) rs369354736 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.12C>G (p.Tyr4Ter) rs72552722 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.137C>T (p.Pro46Leu) rs377767445 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.1520T>C (p.Leu507Ser) rs1157198543 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.394-2A>C rs377724489 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.557T>C (p.Leu186Pro) rs386134197 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.688T>C (p.Phe230Leu) rs756650860 0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs) rs775502377 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.845dup (p.Trp283fs) rs1580888136 0.00001
NM_003060.4(SLC22A5):c.847T>C (p.Trp283Arg) rs72552729 0.00001
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter) rs931801909 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NC_000005.10:g.(?_132368084)_(132370375_?)del
NC_000005.10:g.(?_132384127)_(132392635_?)del
NC_000005.9:g.(?_130497712)_(131729974_?)del
NC_000005.9:g.(?_131436897)_(131729974_?)del
NC_000005.9:g.(?_131705516)_(131729964_?)del
NC_000005.9:g.(?_131713846)_(131714183_?)del
NC_000005.9:g.(?_131713846)_(131720003_?)del
NC_000005.9:g.(?_131719829)_(131728317_?)del
NC_000005.9:g.(?_131722697)_(131724733_?)del
NM_003060.4(SLC22A5):c.104_153delinsATGGTATGTCAGTCGTGTTCCTGGCGGGGACCCCGGAGCACCGCTGTCGA (p.Thr35_Ala44delinsAsnGlyMetSerValValPheLeuAlaGly)
NM_003060.4(SLC22A5):c.1060dup (p.Ile354fs) rs1752666026
NM_003060.4(SLC22A5):c.1073A>G (p.Tyr358Cys)
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs) rs1580892239
NM_003060.4(SLC22A5):c.1090del (p.Asp364fs)
NM_003060.4(SLC22A5):c.1127_1130del (p.Cys376fs)
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs) rs1580892402
NM_003060.4(SLC22A5):c.1159T>C (p.Tyr387His) rs2126789736
NM_003060.4(SLC22A5):c.1172G>A (p.Trp391Ter) rs1554088165
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1240del (p.Leu414fs) rs2126789878
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter) rs1057518297
NM_003060.4(SLC22A5):c.1264_1265dup (p.Asp423fs)
NM_003060.4(SLC22A5):c.1289del (p.Val430fs) rs2126791314
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr) rs779385095
NM_003060.4(SLC22A5):c.1304del (p.Gly435fs) rs386134217
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1347C>A (p.Tyr449Ter) rs2126791445
NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs) rs2126791456
NM_003060.4(SLC22A5):c.1392_1409del (p.Val465_Ser470del)
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg) rs386134221
NM_003060.4(SLC22A5):c.1409C>A (p.Ser470Tyr)
NM_003060.4(SLC22A5):c.1411_1426dup (p.Leu476fs)
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.1412G>C (p.Arg471Pro) rs386134223
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu) rs72552735
NM_003060.4(SLC22A5):c.1446C>G (p.Tyr482Ter) rs569268772
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter) rs763224132
NM_003060.4(SLC22A5):c.1462del (p.Arg488fs)
NM_003060.4(SLC22A5):c.148del (p.Cys50fs) rs386134227
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs) rs1554088578
NM_003060.4(SLC22A5):c.1586+1G>A
NM_003060.4(SLC22A5):c.1586+1G>T rs386134226
NM_003060.4(SLC22A5):c.1586+2T>G
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs) rs1057516797
NM_003060.4(SLC22A5):c.209_240dup (p.Cys81fs)
NM_003060.4(SLC22A5):c.20_21insCCGGT (p.Thr8fs)
NM_003060.4(SLC22A5):c.212_222dup (p.Arg75fs) rs1751843672
NM_003060.4(SLC22A5):c.235del (p.His79fs) rs377767447
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.280del (p.Ala94fs)
NM_003060.4(SLC22A5):c.2T>C (p.Met1Thr) rs1554085885
NM_003060.4(SLC22A5):c.328C>T (p.Gln110Ter) rs2126765527
NM_003060.4(SLC22A5):c.350G>A (p.Trp117Ter)
NM_003060.4(SLC22A5):c.352G>T (p.Glu118Ter)
NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter) rs1554086010
NM_003060.4(SLC22A5):c.37G>T (p.Glu13Ter) rs553647459
NM_003060.4(SLC22A5):c.393+1G>A rs1057517069
NM_003060.4(SLC22A5):c.394-1G>T rs1057517106
NM_003060.4(SLC22A5):c.394-2A>T rs377724489
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.419G>A (p.Trp140Ter) rs796052039
NM_003060.4(SLC22A5):c.428del (p.Pro143fs)
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter) rs796052036
NM_003060.4(SLC22A5):c.447dup (p.Phe150fs)
NM_003060.4(SLC22A5):c.449del (p.Phe150fs) rs2126775742
NM_003060.4(SLC22A5):c.455del (p.Gly152fs)
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe) rs759925126
NM_003060.4(SLC22A5):c.479C>A (p.Ser160Ter) rs2126775809
NM_003060.4(SLC22A5):c.494_497del (p.Asp165fs) rs2126775820
NM_003060.4(SLC22A5):c.497+1G>A
NM_003060.4(SLC22A5):c.497+1G>T
NM_003060.4(SLC22A5):c.497+2T>A rs1752229268
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.506G>C (p.Arg169Pro) rs121908889
NM_003060.4(SLC22A5):c.517del (p.Leu173fs)
NM_003060.4(SLC22A5):c.52del (p.Gln18fs) rs1022453298
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu) rs1437174685
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro) rs1561560424
NM_003060.4(SLC22A5):c.587_588del (p.Phe196fs) rs2126782321
NM_003060.4(SLC22A5):c.597dup (p.Phe200fs) rs1752447161
NM_003060.4(SLC22A5):c.620A>G (p.Gln207Arg)
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.652+1G>T
NM_003060.4(SLC22A5):c.653-2A>C rs386134201
NM_003060.4(SLC22A5):c.653-2A>G
NM_003060.4(SLC22A5):c.671del (p.Lys224fs)
NM_003060.4(SLC22A5):c.69_71del (p.Phe23del) rs2126764814
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.755del (p.Phe252fs) rs1554087491
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg) rs201262157
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu) rs538372785
NM_003060.4(SLC22A5):c.802del (p.Val268fs) rs2126783993
NM_003060.4(SLC22A5):c.818T>C (p.Leu273Pro) rs760320629
NM_003060.4(SLC22A5):c.825-52G>A rs1194929977
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter) rs386134207
NM_003060.4(SLC22A5):c.835G>T (p.Glu279Ter) rs2126785892
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile) rs72552724
NM_003060.4(SLC22A5):c.844del (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.845G>C (p.Arg282Pro)
NM_003060.4(SLC22A5):c.860_861del (p.Gln287fs) rs2126786005
NM_003060.4(SLC22A5):c.881del (p.Glu294fs) rs1554087719
NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp) rs72552730
NM_003060.4(SLC22A5):c.92C>T (p.Pro31Leu) rs2126764868
NM_003060.4(SLC22A5):c.95del (p.Asn32fs)
NM_003060.4(SLC22A5):c.976C>T (p.Gln326Ter) rs1047810495

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