List of variants reported as pathogenic for Renal carnitine transport defect by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.-149G>A	rs57262206	0.00144
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.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.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.424G>T (p.Ala142Ser)	rs151231558	0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)	rs121908891	0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	rs386134212	0.00002
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)	rs72552722	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.1411C>T (p.Arg471Cys)	rs749282641	0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	rs727504159	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.652+1G>A	rs386134200	0.00001
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)	rs386134204	0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)	rs72552725	0.00001
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.1556_1559dup (p.Ile521fs)	rs386134225
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.458_459del (p.Val153fs)	rs386134195
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	rs121908890
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	rs377767444
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)	rs121908893
NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp)	rs72552730

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