ClinVar Miner

List of variants reported as uncertain significance for Renal carnitine transport defect by Illumina Laboratory Services, Illumina

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.*959A>C rs14701 0.00632
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_003060.4(SLC22A5):c.*1062G>A rs138469584 0.00325
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.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.34G>A (p.Gly12Ser) rs139203363 0.00066
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.1451G>T (p.Gly484Val) rs28383480 0.00039
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser) rs546442503 0.00039
NM_003060.4(SLC22A5):c.*637T>C rs1050858831 0.00034
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450 0.00029
NM_003060.4(SLC22A5):c.-26G>A rs369724970 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_003060.4(SLC22A5):c.*1244C>T rs184494469 0.00018
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.1043T>C (p.Ile348Thr) rs150544263 0.00016
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.*1214G>A rs529124788 0.00010
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys) rs755114089 0.00005
NM_003060.4(SLC22A5):c.*74G>A rs565654675 0.00004
NM_003060.4(SLC22A5):c.-30G>C rs758034537 0.00004
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=) rs200637508 0.00004
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met) rs143013773 0.00004
NM_003060.4(SLC22A5):c.*5G>A rs554373076 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.1587-11T>G rs772775759 0.00003
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr) rs568906114 0.00003
NM_003060.4(SLC22A5):c.1199G>A (p.Arg400His) rs371219688 0.00002
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=) rs145350949 0.00002
NM_003060.4(SLC22A5):c.*322C>A rs1220869401 0.00001
NM_003060.4(SLC22A5):c.*484G>A rs760545883 0.00001
NM_003060.4(SLC22A5):c.118G>A (p.Val40Met) rs148657753 0.00001
NM_003060.4(SLC22A5):c.363G>T (p.Gln121His) rs758991830 0.00001
NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn) rs774619135 0.00001
NM_003060.4(SLC22A5):c.*1020C>G rs886059915
NM_003060.4(SLC22A5):c.*17G>A rs773583158
NM_003060.4(SLC22A5):c.*195G>T rs886059910
NM_003060.4(SLC22A5):c.*196A>T rs557809028
NM_003060.4(SLC22A5):c.*417T>A rs886059911
NM_003060.4(SLC22A5):c.*424T>C rs886059912
NM_003060.4(SLC22A5):c.*654G>C rs886059913
NM_003060.4(SLC22A5):c.*678G>T rs148673968
NM_003060.4(SLC22A5):c.*705A>G rs974114194
NM_003060.4(SLC22A5):c.*956_*957insTA rs746348980
NM_003060.4(SLC22A5):c.*957A>T rs200950736
NM_003060.4(SLC22A5):c.*960dup rs869272980
NM_003060.4(SLC22A5):c.-206A>C rs1751805896
NM_003060.4(SLC22A5):c.-231G>C rs1751803560
NM_003060.4(SLC22A5):c.-25C>T rs886059907
NM_003060.4(SLC22A5):c.1120G>A (p.Val374Met) rs886059909
NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val) rs573330330
NM_003060.4(SLC22A5):c.1436A>G (p.Tyr479Cys) rs977041272
NM_003060.4(SLC22A5):c.412G>A (p.Asp138Asn) rs534336326
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=) rs121908893
NM_003060.4(SLC22A5):c.980A>C (p.Gln327Pro) rs886059908

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