ClinVar Miner

List of variants studied for Renal carnitine transport defect by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
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.529A>G (p.Met177Val) rs145068530 0.00028
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
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.1373T>C (p.Val458Ala) rs753268767 0.00007
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.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.769C>T (p.Arg257Trp) rs386134203 0.00004
NM_003060.4(SLC22A5):c.1053-2A>C rs777004046 0.00003
NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter) rs72552731 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.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.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.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.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.629A>G (p.Asn210Ser) rs386134198 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.77G>A (p.Ser26Asn) rs772578415 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.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003060.4(SLC22A5):c.1014G>A (p.Trp338Ter)
NM_003060.4(SLC22A5):c.1032dup (p.Ile345fs)
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.1158del (p.Tyr387fs) rs1580892402
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1240del (p.Leu414fs) rs2126789878
NM_003060.4(SLC22A5):c.1268-2A>G
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.1347del (p.Val448_Tyr449insTer)
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs) rs2126791456
NM_003060.4(SLC22A5):c.136_137dup (p.Glu47fs)
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg) rs386134221
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu) rs72552735
NM_003060.4(SLC22A5):c.1450+1G>A
NM_003060.4(SLC22A5):c.1451-2A>G
NM_003060.4(SLC22A5):c.1477dup (p.Ile493fs)
NM_003060.4(SLC22A5):c.1587-2A>G rs1057516402
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs) rs1057516797
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.280_283dup (p.Leu95fs)
NM_003060.4(SLC22A5):c.384dup (p.Val129fs)
NM_003060.4(SLC22A5):c.394-151C>G
NM_003060.4(SLC22A5):c.394-1G>T rs1057517106
NM_003060.4(SLC22A5):c.394-2A>G
NM_003060.4(SLC22A5):c.408_409dup (p.Glu137fs)
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter) rs796052036
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.497+1G>A
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
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.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.678del (p.Arg227fs)
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg) rs2126783802
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.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.825-52G>A rs1194929977
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter) rs386134207
NM_003060.4(SLC22A5):c.844del (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.951+1G>A
NM_003060.4(SLC22A5):c.952-2A>G rs1554087913

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.