ClinVar Miner

List of variants studied for Renal carnitine transport defect by Giacomini Lab, University of California, San Francisco

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ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val) rs139775414 0.00365
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.1590G>T (p.Met530Ile) rs148233131 0.00335
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.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.1142T>C (p.Met381Thr) rs149730454 0.00056
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.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.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.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala) rs544332057 0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 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.415G>A (p.Asp139Asn) rs577131769 0.00007
NM_003060.4(SLC22A5):c.770G>A (p.Arg257Gln) rs148989838 0.00006
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys) rs386134221 0.00004
NM_003060.4(SLC22A5):c.1631A>T (p.Asp544Val) rs764068991 0.00004
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp) rs386134203 0.00004
NM_003060.4(SLC22A5):c.1552C>G (p.Pro518Ala) rs768925240 0.00003
NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg) rs200290813 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.368T>G (p.Val123Gly) rs748605096 0.00002
NM_003060.4(SLC22A5):c.573G>T (p.Lys191Asn) rs765204844 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.1116C>G (p.Ile372Met) rs753461448 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.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.1394T>G (p.Val465Gly) rs917270911 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.1520T>C (p.Leu507Ser) rs1157198543 0.00001
NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu) rs758158685 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.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.338G>A (p.Cys113Tyr) rs727504159 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.391G>A (p.Glu131Lys) rs1321705165 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.455G>A (p.Gly152Asp) rs747821417 0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro) rs386134197 0.00001
NM_003060.4(SLC22A5):c.613A>C (p.Met205Leu) rs1322301830 0.00001
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser) rs386134198 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 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.961C>G (p.Leu321Val) rs761264590 0.00001
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.1037T>C (p.Met346Thr)
NM_003060.4(SLC22A5):c.103A>G (p.Thr35Ala)
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003060.4(SLC22A5):c.1099A>G (p.Asn367Asp)
NM_003060.4(SLC22A5):c.1106A>C (p.His369Pro)
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
NM_003060.4(SLC22A5):c.1232G>T (p.Gly411Val)
NM_003060.4(SLC22A5):c.1294G>C (p.Val432Leu)
NM_003060.4(SLC22A5):c.1300G>C (p.Val434Leu)
NM_003060.4(SLC22A5):c.1324G>A (p.Ala442Thr)
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys) rs1183338050
NM_003060.4(SLC22A5):c.1462C>G (p.Arg488Gly)
NM_003060.4(SLC22A5):c.1475A>G (p.Tyr492Cys) rs1413377442
NM_003060.4(SLC22A5):c.1505C>T (p.Thr502Ile)
NM_003060.4(SLC22A5):c.1519T>G (p.Leu507Val)
NM_003060.4(SLC22A5):c.1534A>G (p.Ser512Gly)
NM_003060.4(SLC22A5):c.1552C>T (p.Pro518Ser) rs768925240
NM_003060.4(SLC22A5):c.158C>G (p.Pro53Arg)
NM_003060.4(SLC22A5):c.1609A>G (p.Ser537Gly)
NM_003060.4(SLC22A5):c.164C>T (p.Ala55Val)
NM_003060.4(SLC22A5):c.172C>G (p.Leu58Val)
NM_003060.4(SLC22A5):c.177C>G (p.Ser59Arg)
NM_003060.4(SLC22A5):c.182C>T (p.Ala61Val)
NM_003060.4(SLC22A5):c.191A>T (p.Asn64Ile)
NM_003060.4(SLC22A5):c.194A>T (p.His65Leu)
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.235C>A (p.His79Asn)
NM_003060.4(SLC22A5):c.245G>T (p.Arg82Leu)
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.269C>T (p.Ala90Val)
NM_003060.4(SLC22A5):c.274T>G (p.Phe92Val)
NM_003060.4(SLC22A5):c.281C>T (p.Ala94Val)
NM_003060.4(SLC22A5):c.289C>A (p.Leu97Met)
NM_003060.4(SLC22A5):c.289C>G (p.Leu97Val)
NM_003060.4(SLC22A5):c.304G>A (p.Asp102Asn)
NM_003060.4(SLC22A5):c.325G>C (p.Glu109Gln) rs1254200528
NM_003060.4(SLC22A5):c.341T>C (p.Leu114Pro)
NM_003060.4(SLC22A5):c.412G>T (p.Asp138Tyr) rs534336326
NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu) rs751129547
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.4C>G (p.Arg2Gly) rs762330138
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu) rs1437174685
NM_003060.4(SLC22A5):c.544G>T (p.Gly182Cys)
NM_003060.4(SLC22A5):c.545G>T (p.Gly182Val)
NM_003060.4(SLC22A5):c.562A>G (p.Ile188Val)
NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu) rs757979350
NM_003060.4(SLC22A5):c.5G>C (p.Arg2Pro)
NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His) rs780314370
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.646G>C (p.Val216Leu)
NM_003060.4(SLC22A5):c.679C>A (p.Arg227Ser)
NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)
NM_003060.4(SLC22A5):c.686T>C (p.Ile229Thr)
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
NM_003060.4(SLC22A5):c.704T>G (p.Val235Gly) rs796052034
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.800G>A (p.Gly267Glu) rs775430253
NM_003060.4(SLC22A5):c.800G>C (p.Gly267Ala)
NM_003060.4(SLC22A5):c.814G>C (p.Ala272Pro)
NM_003060.4(SLC22A5):c.84C>G (p.Ser28Arg)
NM_003060.4(SLC22A5):c.866G>A (p.Arg289Gln) rs756260416
NM_003060.4(SLC22A5):c.892C>G (p.Arg298Gly)
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
NM_003060.4(SLC22A5):c.934A>C (p.Ile312Leu)

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